ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306G>T (p.Ala102=)

gnomAD frequency: 0.00002  dbSNP: rs587783196
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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 RCV000145052 SCV000192092 uncertain significance epileptic encephalopathy, early infanitle, 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000734606 SCV000516658 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734606 SCV000862760 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV001087726 SCV001011477 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444600 SCV002753037 likely benign Inborn genetic diseases 2018-11-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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