ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)

dbSNP: rs2519418774
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468725 SCV002764748 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2020-08-25 criteria provided, single submitter clinical testing

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