ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255756 SCV004032307 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2023-08-18 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP,PP3
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255756 SCV001432339 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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