Submissions for variant NM_000465.4(BARD1):c.2328C>T (p.Asp776=)

gnomAD frequency: 0.00001  dbSNP: rs863224673

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199404	SCV000254579	likely benign	Familial cancer of breast	2024-05-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000221684	SCV000278704	likely benign	Hereditary cancer-predisposing syndrome	2015-09-29	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.
Color Diagnostics, LLC DBA Color Health	RCV000221684	SCV000904031	likely benign	Hereditary cancer-predisposing syndrome	2017-11-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000221684	SCV002529601	likely benign	Hereditary cancer-predisposing syndrome	2021-11-16	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477669	SCV004222396	likely benign	not provided	2023-05-12	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000199404	SCV005406603	benign	Familial cancer of breast	2024-07-30	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.