Submissions for variant NM_007294.4(BRCA1):c.1125A>G (p.Leu375=)

dbSNP: rs1060504578

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000477563	SCV000560280	likely benign	Hereditary breast ovarian cancer syndrome	2023-12-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561963	SCV000661002	likely benign	Hereditary cancer-predisposing syndrome	2016-02-29	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.
GeneDx	RCV001707704	SCV000727031	likely benign	not provided	2019-11-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000561963	SCV000910216	likely benign	Hereditary cancer-predisposing syndrome	2017-11-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492067	SCV004240194	likely benign	Breast and/or ovarian cancer	2022-08-15	criteria provided, single submitter	clinical testing