ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)

dbSNP: rs1064795587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479734 SCV000571544 likely pathogenic not provided 2019-05-20 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
Counsyl RCV000675105 SCV000800652 uncertain significance Nephropathic cystinosis 2018-01-09 no assertion criteria provided clinical testing

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