ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1281C>T (p.Asp427=)

gnomAD frequency: 0.00002  dbSNP: rs587783185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145041 SCV000192079 uncertain significance epileptic encephalopathy, early infanitle, 1 2013-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764881 SCV004606794 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related 2023-12-21 criteria provided, single submitter clinical testing

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