Submissions for variant NM_007300.4(BRCA1):c.2315T>C (p.Val772Ala) (rs80357467)

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000111824	SCV000244316	benign	Breast-ovarian cancer, familial 1	2015-08-10	reviewed by expert panel	curation	IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000000192
Invitae	RCV000047797	SCV000075810	benign	Hereditary breast and ovarian cancer syndrome	2018-01-04	criteria provided, single submitter	clinical testing
Counsyl	RCV000111824	SCV000154018	likely benign	Breast-ovarian cancer, familial 1	2014-02-06	criteria provided, single submitter	literature only
GeneDx	RCV000168496	SCV000167254	benign	not specified	2014-01-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000162790	SCV000213268	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000111824	SCV000267700	benign	Breast-ovarian cancer, familial 1	2016-04-21	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000168496	SCV000538449	uncertain significance	not specified	2016-06-16	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Multiple papers describe as VUS; ClinVar: 5 B/LB, 3 VUS
Fulgent Genetics,Fulgent Genetics	RCV000111824	SCV000575713	likely benign	Breast-ovarian cancer, familial 1	2015-10-01	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000168496	SCV000591379	benign	not specified	2014-03-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000168496	SCV000593674	likely benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing
Color	RCV000162790	SCV000683027	likely benign	Hereditary cancer-predisposing syndrome	2015-01-02	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000034731	SCV000708437	uncertain significance	not provided	2017-05-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000111824	SCV000743418	likely benign	Breast-ovarian cancer, familial 1	2017-07-28	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000111824	SCV000744662	benign	Breast-ovarian cancer, familial 1	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034731	SCV000883464	benign	not provided	2018-03-28	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034731	SCV000043177	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111824	SCV000144378	uncertain significance	Breast-ovarian cancer, familial 1	2002-05-29	no assertion criteria provided	clinical testing
CSER_CC_NCGL; University of Washington Medical Center	RCV000148397	SCV000190096	uncertain significance	Neoplasm of the breast	2014-06-01	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000111824	SCV000733645	benign	Breast-ovarian cancer, familial 1		no assertion criteria provided	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000034731	SCV000778758	likely benign	not provided	2017-05-17	no assertion criteria provided	clinical testing