ClinVar Miner

Submissions for variant NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr)

dbSNP: rs786200925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002462889 SCV002756624 likely pathogenic not provided 2022-07-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35047859)
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001353076 SCV001438010 likely pathogenic Autosomal dominant Robinow syndrome 1 2015-02-09 no assertion criteria provided research

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