ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.336A>G (p.Ala112=)

gnomAD frequency: 0.00022  dbSNP: rs794727308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175971 SCV000227551 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082850 SCV001001812 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000175971 SCV001893204 benign not provided 2015-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175971 SCV002585115 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ARX: BP4, BP7

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