Submissions for variant NM_007294.4(BRCA1):c.4971G>A (p.Leu1657=)

dbSNP: rs786202058

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495029	SCV000578195	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics	RCV000164678	SCV000215345	likely benign	Hereditary cancer-predisposing syndrome	2022-06-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000781027	SCV000918787	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284297	SCV001470004	likely benign	not provided	2020-01-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001425834	SCV001628472	likely benign	Hereditary breast ovarian cancer syndrome	2021-06-07	criteria provided, single submitter	clinical testing
Brotman Baty Institute, University of Washington	RCV000495029	SCV001238362	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro