ClinVar Miner

Submissions for variant NM_016032.4(ZDHHC9):c.286C>T (p.Arg96Trp) (rs1131690786)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine,Daejeon St. Mary’s Hospital RCV000493569 SCV000574703 pathogenic Mental retardation, X-linked, syndromic, Raymond type 2017-04-04 no assertion criteria provided clinical testing The first sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.
OMIM RCV000493569 SCV001250831 pathogenic Mental retardation, X-linked, syndromic, Raymond type 2020-05-15 no assertion criteria provided literature only

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