ClinVar Miner

Submissions for variant NM_003506.4(FZD6):c.346C>T (p.Arg116Ter) (rs769116796)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578928 SCV000680525 pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing The R116X variant in the FZD6 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R116X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R116X as a pathogenic variant.
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505681 SCV000599923 other Wilms Tumor 2016-05-01 no assertion criteria provided clinical testing

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