ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.12dup (p.Ser5fs)

dbSNP: rs2146978931
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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 Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226962 SCV002505877 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2021-08-01 criteria provided, single submitter clinical testing

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