ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter)

dbSNP: rs1599841026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001007663 SCV000998527 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations no assertion criteria provided clinical testing

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