ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.4264_4265delinsGTGGTCTGAG (p.His1422delinsValValTer)

dbSNP: rs1064793462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480506 SCV000566186 likely pathogenic not provided 2020-12-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 102 amino acids are replaced with 2 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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