ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1059C>A (p.Pro353=)

dbSNP: rs368649242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163643 SCV000214213 likely benign Hereditary cancer-predisposing syndrome 2013-12-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516454 SCV003228544 likely benign Familial cancer of breast 2022-08-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002516454 SCV005404481 benign Familial cancer of breast 2024-07-24 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.

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