ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3936dup (p.Val1313fs)

dbSNP: rs587776900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003236770 SCV003935420 pathogenic not provided 2022-12-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 21961505, 31258591, 33921653, 33937237, 24228726, 25303973, 35726608, 21496009, 34402213, 20890279, 32677750, 20890278)
OMIM RCV000024032 SCV000045323 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2010-11-01 no assertion criteria provided literature only
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV000024032 SCV001481960 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-01 no assertion criteria provided clinical testing

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