Submissions for variant NM_007294.4(BRCA1):c.2920T>C (p.Leu974=)

gnomAD frequency: 0.00001  dbSNP: rs763845063

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495730	SCV000578254	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	RCV000166382	SCV000217174	likely benign	Hereditary cancer-predisposing syndrome	2014-10-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV000166382	SCV000683072	likely benign	Hereditary cancer-predisposing syndrome	2017-04-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588364	SCV000698988	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Invitae	RCV000982218	SCV001130231	likely benign	Hereditary breast ovarian cancer syndrome	2023-12-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000588364	SCV002070353	likely benign	not specified	2020-08-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895149	SCV004713740	likely benign	BRCA1-related condition	2023-08-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).