ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp)

gnomAD frequency: 0.00001  dbSNP: rs587784544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147916 SCV000195408 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2013-09-17 criteria provided, single submitter clinical testing
GeneDx RCV001565083 SCV001788355 likely pathogenic not provided 2022-10-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 27460824)

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