ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1275G>T (p.Ala425=)

dbSNP: rs2048682544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588485 SCV001822898 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771800 SCV004584193 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-11-21 criteria provided, single submitter clinical testing

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