ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.855G>A (p.Glu285=)

gnomAD frequency: 0.00004  dbSNP: rs139301257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462096 SCV000561864 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-09-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504068 SCV000593423 likely benign not specified 2015-11-24 criteria provided, single submitter clinical testing

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