ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1488C>T (p.Thr496=)

gnomAD frequency: 0.00010  dbSNP: rs773666007
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865069 SCV001005974 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884756 SCV004699567 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ARX: BP4, BP7

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