ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.947T>A (p.Met316Lys) (rs137861347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586456 SCV000696479 uncertain significance not provided 2016-02-29 criteria provided, single submitter clinical testing
GeneDx RCV000586456 SCV001773646 likely pathogenic not provided 2021-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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