ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg)

gnomAD frequency: 0.00002  dbSNP: rs587784550
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147943 SCV000195436 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2013-02-15 criteria provided, single submitter clinical testing

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