ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) (rs797044808)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000192273 SCV000243781 pathogenic Dent disease type 1 2014-09-25 no assertion criteria provided literature only

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