ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)

gnomAD frequency: 0.00001  dbSNP: rs747122703
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164260 SCV000214884 likely benign Hereditary cancer-predisposing syndrome 2019-05-06 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 RCV000432629 SCV000522118 likely benign not specified 2015-12-09 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 RCV001498136 SCV001702878 likely benign Familial cancer of breast 2021-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164260 SCV002053638 likely benign Hereditary cancer-predisposing syndrome 2021-04-15 criteria provided, single submitter clinical testing

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