ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.441A>G (p.Ala147=)

dbSNP: rs797045301
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194099 SCV000246566 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing
Invitae RCV000650185 SCV000772022 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720962 SCV000851846 likely benign History of neurodevelopmental disorder 2017-10-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV001711493 SCV001939412 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711493 SCV004164659 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing ARX: BP4, BP7, BS2

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