ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs)

dbSNP: rs2032737696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264756 SCV001442992 pathogenic Intellectual disability, autosomal dominant 56 2020-04-03 no assertion criteria provided clinical testing

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