ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.873C>G (p.Pro291=)

gnomAD frequency: 0.00001  dbSNP: rs1359275622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727507 SCV001962611 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771881 SCV004593019 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-09-05 criteria provided, single submitter clinical testing

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