ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1822G>C (p.Val608Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442254 SCV004169288 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 17550235)
Baylor Genetics RCV003459862 SCV004217257 uncertain significance Familial cancer of breast 2023-06-07 criteria provided, single submitter clinical testing

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