ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)

dbSNP: rs2146867887
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Total submissions: 1
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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 RCV002074454 SCV002320703 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2022-01-04 criteria provided, single submitter clinical testing

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