ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)

dbSNP: rs1294048440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588708 SCV001824399 uncertain significance not provided 2019-03-21 criteria provided, single submitter clinical testing Not observed 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
Natera, Inc. RCV001836466 SCV002091714 uncertain significance Usher syndrome type 1F 2020-02-26 no assertion criteria provided clinical testing

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