ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)

gnomAD frequency: 0.00001  dbSNP: rs146232504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814947 SCV002061877 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2021-05-14 criteria provided, single submitter clinical testing PP2, PP3, PM1, PM2

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