ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs)

dbSNP: rs2147080766
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001733426 SCV001983772 pathogenic Intellectual disability, X-linked 99, syndromic, female-restricted 2021-06-01 no assertion criteria provided clinical testing

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