ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr)

dbSNP: rs1970564827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331597 SCV001523671 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with microcephaly and was shown to affect the canonical splicing of exon 3 [PMID 23065275, 28004384, 22775483]

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