ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) (rs797044813)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414429 SCV000490473 pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The R637X nonsense variant in the CLCN5 gene has been reported previously in association with Dent disease (Li etal., 2009; Takemura et al., 2001). This pathogenicvariant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. We interpret R637X to be a pathogenic variant.
GeneReviews RCV000192279 SCV000243787 pathogenic Dent disease type 1 2014-09-25 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000414429 SCV000809286 pathogenic not provided 2018-09-16 no assertion criteria provided research

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