ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.662C>T (p.Thr221Ile)

dbSNP: rs1017790646
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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 RCV001039896 SCV001203446 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2021-09-01 criteria provided, single submitter clinical testing

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