ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1138G>A (p.Asp380Asn)

dbSNP: rs755050401
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226929 SCV002505832 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2021-08-01 criteria provided, single submitter clinical testing

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