ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255769 SCV001432368 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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