ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.611G>T (p.Arg204Leu)

dbSNP: rs755745002
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 RCV000822062 SCV000962847 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2021-09-02 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251911 SCV001427657 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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