ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) (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 Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
OMIM RCV000010428 SCV000030654 pathogenic Mental retardation, syndromic, Claes-Jensen type, X-linked 2005-02-01 no assertion criteria provided literature only

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