ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1186C>A (p.Pro396Thr)

dbSNP: rs776523818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303155 SCV001492391 benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481061 SCV004225651 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing BP5, PM2

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