Submissions for variant NM_000059.4(BRCA2):c.6937+594T>G

gnomAD frequency: 0.00096  dbSNP: rs191253965

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000238896	SCV000321295	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-09-28	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0144 (Admixed American/Latino), derived from 1000 genomes (2013-05-02).
GeneDx	RCV000074552	SCV000108637	benign	not specified	2014-02-11	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001811349	SCV000296724	benign	not provided	2021-11-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000581988	SCV000689013	likely benign	Hereditary cancer-predisposing syndrome		criteria provided, single submitter	clinical testing
Counsyl	RCV000238896	SCV000786110	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2018-02-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000238896	SCV001139162	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811349	SCV002049437	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000074552	SCV002066239	likely benign	not specified	2020-06-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000581988	SCV002536284	likely benign	Hereditary cancer-predisposing syndrome	2021-05-17	criteria provided, single submitter	curation
Ambry Genetics	RCV000581988	SCV002664335	benign	Hereditary cancer-predisposing syndrome	2018-06-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001811349	SCV004010224	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	BRCA2: BS1, BS2