ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1389C>T (p.Ser463=)

gnomAD frequency: 0.00004  dbSNP: rs760617042
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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 RCV002128209 SCV002450707 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438968 SCV004164652 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ARX: BP4, BP7, BS2

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