ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.372G>A (p.Glu124=)

gnomAD frequency: 0.00001  dbSNP: rs1006764242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867561 SCV001008803 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-12-05 criteria provided, single submitter clinical testing

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