ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1245C>T (p.Asp415=)

dbSNP: rs2147320537
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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 RCV001433352 SCV001636141 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2022-10-13 criteria provided, single submitter clinical testing

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