ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004018046 SCV004847236 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2023-04-16 criteria provided, single submitter clinical testing

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