ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.441A>G (p.Ala147=) (rs797045301)

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Total submissions: 3
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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 Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-12-31 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

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