ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1938del (p.Phe646fs)

dbSNP: rs2147605760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV001849668 SCV002106618 likely pathogenic Dent disease type 1 2019-02-14 no assertion criteria provided literature only

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