ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)

dbSNP: rs2146961698
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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 RCV001754556 SCV001994789 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2021-10-23 no assertion criteria provided clinical testing

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