ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser)

gnomAD frequency: 0.00019  dbSNP: rs369178019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624015 SCV000741213 uncertain significance Inborn genetic diseases 2015-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766093 SCV000897568 uncertain significance Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001555372 SCV001776782 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001555372 SCV003468141 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945567 SCV004763342 likely benign USP9X-related disorder 2022-08-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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