ClinVar Miner

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

dbSNP: rs587783196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598157 SCV000708590 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317343 SCV000850150 likely benign Inborn genetic diseases 2016-08-25 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.
Invitae RCV002062093 SCV002384024 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-10-13 criteria provided, single submitter clinical testing

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