ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) (rs1135401800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000496186 SCV000586761 pathogenic Mental retardation, syndromic, Claes-Jensen type, X-linked 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability,moderate; microcephaly (-2SD); short stature
Ambry Genetics RCV000623338 SCV000741427 pathogenic Inborn genetic diseases 2016-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000496186 SCV000894493 pathogenic Mental retardation, syndromic, Claes-Jensen type, X-linked 2018-10-31 criteria provided, single submitter clinical testing

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