ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs)

dbSNP: rs587776899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024030 SCV000045321 pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2010-11-01 no assertion criteria provided literature only

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