ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter)

dbSNP: rs869025588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000208736 SCV000264572 pathogenic Intellectual disability, X-linked 99, syndromic, female-restricted 2021-08-19 no assertion criteria provided literature only

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