ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs)

dbSNP: rs2145874989
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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 RCV001507260 SCV001481956 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-01-01 no assertion criteria provided clinical testing

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