Submissions for variant NM_007294.4(BRCA1):c.5008A>C (p.Arg1670=)

dbSNP: rs1057523976

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442609	SCV000534121	likely benign	not specified	2016-11-22	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	RCV000562125	SCV000664997	likely benign	Hereditary cancer-predisposing syndrome	2016-02-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000934156	SCV001079873	likely benign	Hereditary breast ovarian cancer syndrome	2024-05-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000562125	SCV004360138	likely benign	Hereditary cancer-predisposing syndrome	2021-07-26	criteria provided, single submitter	clinical testing
Brotman Baty Institute, University of Washington	RCV001072963	SCV001238435	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro