ClinVar Miner

Submissions for variant NM_001083961.1(WDR62):c.3304C>T (rs376633424)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521576 SCV000618164 pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing The Q1102X pathogenic variant in the WDR62 gene has been reported previously in a patient perisylvian polymicrogyria, epileptic encephalopathy, and developmental delay who also had a second variant on the opposite WDR62 allele (in trans) (Zillhardt et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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