ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter)

dbSNP: rs147875659
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Total submissions: 1
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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 RCV001253709 SCV001429559 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2016-09-26 criteria provided, single submitter clinical testing

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