ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1678-20A>G

gnomAD frequency: 0.00051  dbSNP: rs189401077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427308 SCV000512246 benign not specified 2015-07-28 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.
Color Diagnostics, LLC DBA Color Health RCV000580019 SCV000682723 likely benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing
Invitae RCV002061343 SCV002329896 benign Familial cancer of breast 2023-12-16 criteria provided, single submitter clinical testing

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