Submissions for variant NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)

dbSNP: rs786201315

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000565459	SCV000665018	likely benign	Hereditary cancer-predisposing syndrome	2016-09-09	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	RCV000586053	SCV000694627	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000920539	SCV001065908	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000565459	SCV002051834	likely benign	Hereditary cancer-predisposing syndrome	2021-07-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000586053	SCV002071280	uncertain significance	not specified	2019-10-09	criteria provided, single submitter	clinical testing