ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.413G>A (p.Arg138His)

gnomAD frequency: 0.00002  dbSNP: rs199673795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192911 SCV000249454 uncertain significance not specified 2015-06-17 criteria provided, single submitter clinical testing
GeneDx RCV001762413 SCV001999312 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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