Submissions for variant NM_000465.4(BARD1):c.2013G>A (p.Leu671=)

gnomAD frequency: 0.00001  dbSNP: rs759021562

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164018	SCV000214623	likely benign	Hereditary cancer-predisposing syndrome	2015-04-08	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.
GeneDx	RCV000425424	SCV000527215	likely benign	not specified	2017-01-18	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.
Invitae	RCV000559930	SCV000633000	likely benign	Familial cancer of breast	2024-01-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164018	SCV000692105	likely benign	Hereditary cancer-predisposing syndrome	2016-05-12	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000425424	SCV004243113	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing