GNOM_INTPRT_VER_INFO
Description:
Main table for information in a single version of a genomic interpretation.

Primary Key
Column Name Ordinal Position
GNOM_INTPRT_ID 1
CONTACT_DATE_REAL 2

Column Information
Name Type Discontinued?
1 GNOM_INTPRT_ID NUMERIC No
The unique identifier (.1 item) for the interpretation record.
2 CONTACT_DATE_REAL FLOAT No
A unique contact date in decimal format. The integer portion of the number indicates the date of contact. The digits after the decimal distinguish different contacts on the same date and are unique for each contact on that date. For example, .00 is the first/only contact, .01 is the second contact, etc.
3 GNOM_INTPRT_ENTRY_SRC_C_NAME VARCHAR No
The method that was used to create the interpretation.
May contain organization-specific values: No
Category Entries:
Interfaced Result
Manually Entered Result
Happy Together Result
4 EXTERNAL_YN VARCHAR No
Indicates whether the interpretation should be considered external, such as auto-reconciliation by Happy Together using data from an external organization.
May contain organization-specific values: No
Category Entries:
No
Yes
5 FILED_BY_RESULT_ID VARCHAR No
The OVR ID for which the results include this interpretation.
6 GNOM_INTPRT_CLASS_C_NAME VARCHAR No
The classification with respect to this particular phenotype and mode of inheritance. For germline variants, category values Pathogenic, Likely pathogenic, Uncertain Significance, Likely benign, and Benign correspond to values in LOINC 53037-8. For somatic variants found during tumor testing, category values Tier 1: Strong significance, Tier 2: Potential Significance, Tier 3: Unknown clinical significance, and Tier 4: Benign or likely benign correspond to values in the ACMG Tier System for significance of somatic variants. For pharmacogenomic variants, use value 300-Drug response. For repeat expansion variants, category values Complete Penetrance, Incomplete Penetrance, Uncertain Penetrance, Premutation, Intermediate, Mutable Normal Allele, Recessive Allele, and Normal Allele correspond to repeat expansion guidelines.
May contain organization-specific values: No
Category Entries:
Pathogenic
Likely pathogenic
Uncertain significance
Likely benign
Benign
Gene of Uncertain Significance
Risk allele
Pseudodeficiency allele
Hypomorphic
Tier 1 or 2: Strong or potential significance
Tier 1: Strong significance
Tier 2: Potential significance
Tier 3: Unknown clinical significance
Tier 4: Benign or likely benign
Drug response
Complete Penetrance
Incomplete Penetrance
Premutation
Uncertain Penetrance
Intermediate
Mutable Normal Allele
Recessive Allele
Normal Allele
Classification not provided
7 MODE_OF_INHERITANCE_C_NAME VARCHAR No
Enter the mode of inheritance for the phenotype.
May contain organization-specific values: No
Category Entries:
Autosomal dominant inheritance
Autosomal dominant inheritance with maternal imprinting
Autosomal dominant inheritance with paternal imprinting
Autosomal recessive inheritance
Autosomal unknown
Codominant
Digenic inheritance
Polygenic inheritance
Genetic anticipation
Mitochondrial inheritance
Multifactorial inheritance
Semidominant inheritance
Oligogenic inheritance
Pseudoautosomal dominant inheritance
Pseudoautosomal recessive inheritance
Sex-limited autosomal dominant
Somatic mutation
Sporadic
Unknown mechanism
X-linked dominant inheritance
X-linked inheritance
X-linked recessive inheritance
Y-linked inheritance
Other
8 PENETRANCE NUMERIC No
Enter the penetrance of the phenotype for this variant. This should be a value between 0.0 and 1.0. Penetrance is defined as the percentage of individuals with a given genotype who exhibit the phenotype associated with that genotype.
9 PHENOTYPE_DESCRIPTION VARCHAR No
Enter a free-text description of the specified phenotype.
10 NARR_NOTE_CSN_ID NUMERIC No
A free-text description of the interpretation and the clinical implication for the patient.
11 THERAP_GNOM_INTPRT_EVID_LVL_C_NAME VARCHAR No
Level of clinical/experimental evidence that a biomarker predicts response or resistance to therapy. A: Biomarkers that predict response or resistance to FDA-approved therapies for a specific type of tumor; and/or biomarkers included in professional guidelines that predict response or resistance to therapies for a specific type of tumor. B: Biomarkers that predict response or resistance to therapies for a specific type of tumor based on well-powered studies with consensus from experts in the field. C: Biomarkers that predict response or resistance to therapies approved by the FDA or professional societies for a different type of tumor; and/or biomarkers that serve as inclusion criteria for clinical trials. D: Biomarkers that show plausible therapeutic significance based on preclinical studies.
May contain organization-specific values: No
Category Entries:
Level A
Level B
Level C
Level D
12 DX_GNOM_INTPRT_EVID_LVL_C_NAME VARCHAR No
Level of clinical/experimental evidence that a biomarker has diagnostic significance. A: Biomarkers included in professional guidelines as diagnostic for a specific type of tumor. B: Biomarkers of diagnostic significance for a specific type of tumor based on well-powered studies with consensus from experts in the field. C: Biomarkers of diagnostic significance based on the results of multiple small studies. D: Biomarkers that may assist disease diagnosis themselves or along with other biomarkers based on small studies or a few case reports.
The category values for this column were already listed for column: THERAP_GNOM_INTPRT_EVID_LVL_C_NAME
13 PROG_GNOM_INTPRT_EVID_LVL_C_NAME VARCHAR No
Level of clinical/experimental evidence that a biomarker has prognostic significance. A: Biomarkers included in professional guidelines as prognostic for a specific type of tumor. B: Biomarkers of prognostic significance for a specific type of tumor based on well-powered studies with consensus from experts in the field. C: Biomarkers of prognostic significance based on the results of multiple small studies. D: Biomarkers that may assist disease prognosis themselves or along with other biomarkers based on small studies or a few case reports.
The category values for this column were already listed for column: THERAP_GNOM_INTPRT_EVID_LVL_C_NAME
14 GNOM_INTPRT_ONCOGEN_C_NAME VARCHAR No
Assessment of the variants' ability to confer growth and survival advantages in tumor cells. Measured from Oncogenic, Likely Oncogenic, VUS, Likely Benign, and Benign.
May contain organization-specific values: No
Category Entries:
Oncogenic
Likely Oncogenic
Uncertain Significance
Likely Benign
Benign