ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1821dup (p.Arg608fs)

dbSNP: rs1213710245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008125 SCV001167881 pathogenic not provided 2023-03-25 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: 28756000, 25303973, 26582918, 24479948, 27535533)
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255785 SCV001432398 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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