Submissions for variant NM_000465.4(BARD1):c.1317C>T (p.Gly439=)

gnomAD frequency: 0.00001  dbSNP: rs369986649

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166386	SCV000217178	likely benign	Hereditary cancer-predisposing syndrome	2014-10-16	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	RCV000606302	SCV000732133	likely benign	not specified	2017-11-13	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.
Color Diagnostics, LLC DBA Color Health	RCV000166386	SCV000908573	likely benign	Hereditary cancer-predisposing syndrome	2018-02-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000997656	SCV001153294	uncertain significance	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV001056190	SCV001220617	likely benign	Familial cancer of breast	2024-01-09	criteria provided, single submitter	clinical testing