ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)

dbSNP: rs199422235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623976 SCV000742375 likely pathogenic Inborn genetic diseases 2017-04-05 criteria provided, single submitter clinical testing
OMIM RCV000010428 SCV000030654 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2005-02-01 no assertion criteria provided literature only

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