ClinVar Miner

Submissions for variant NM_001379403.1(WDR26):c.351_353dup (p.Gly125_Gln126insGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003405809 SCV004110712 uncertain significance WDR26-related disorder 2023-08-27 criteria provided, single submitter clinical testing The WDR26 c.51_53dupTGG variant is predicted to result in an in-frame duplication (p.Gly25dup). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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