ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) (rs387906492)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145054 SCV000192094 benign not specified 2014-02-11 criteria provided, single submitter clinical testing
Invitae RCV001081429 SCV000291348 likely benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000145054 SCV000564595 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000624905 SCV000741999 uncertain significance Inborn genetic diseases 2014-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000718543 SCV000849407 uncertain significance History of neurodevelopmental disorder 2019-03-10 criteria provided, single submitter clinical testing Insufficient evidence
Mendelics RCV000990556 SCV001141567 benign Epileptic encephalopathy, early infantile, 1 2019-05-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152797 SCV000202187 uncertain significance not provided 2014-03-18 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.