ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)

dbSNP: rs1556852362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000623905 SCV000740296 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2017-12-20 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091934 SCV001248224 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing KDM5C: PVS1, PM2

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