ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.457G>A (p.Ala153Thr)

dbSNP: rs2048712192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001466016 SCV001670015 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2019-11-14 criteria provided, single submitter clinical testing

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