ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2622+2dup

dbSNP: rs1057519393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000417058 SCV000485007 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type no assertion criteria provided clinical testing

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