ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1684C>G (p.His562Asp)

dbSNP: rs1379578836
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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 Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000786041 SCV000924581 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2019-06-21 no assertion criteria provided clinical testing The proband has another variant on the WDR62 gene as a compound heterozygote (NG_028101.1:g.21672_21683del). In addition, through parent tests, the variants were confirmed as trans.

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