ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)

gnomAD frequency: 0.00001  dbSNP: rs387907082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384574 SCV001584117 pathogenic not provided 2021-07-14 criteria provided, single submitter clinical testing
OMIM RCV000024029 SCV000045320 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2010-11-01 no assertion criteria provided literature only

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