ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) (rs387906729)

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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 RCV001267535 SCV001445716 likely pathogenic Inborn genetic diseases 2018-04-02 criteria provided, single submitter clinical testing
OMIM RCV000022891 SCV000044182 pathogenic Mental retardation, syndromic, Claes-Jensen type, X-linked 2010-03-01 no assertion criteria provided literature only

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