Submissions for variant NM_000465.4(BARD1):c.843A>G (p.Pro281=)

gnomAD frequency: 0.00001  dbSNP: rs1559424812

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000773827	SCV000907527	likely benign	Hereditary cancer-predisposing syndrome	2018-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001445905	SCV001648947	likely benign	Familial cancer of breast	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000773827	SCV005035747	likely benign	Hereditary cancer-predisposing syndrome	2023-11-21	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.
Myriad Genetics, Inc.	RCV001445905	SCV005406163	benign	Familial cancer of breast	2024-07-23	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.