ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1347C>T (p.Gly449=) (rs75489697)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082601 SCV000114643 benign not specified 2013-08-02 criteria provided, single submitter clinical testing
GeneDx RCV000082601 SCV000167035 benign not specified 2012-04-27 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.
Genetic Services Laboratory, University of Chicago RCV000082601 SCV000192081 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082601 SCV000315889 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576415 SCV000677132 benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2017-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715060 SCV000845884 benign History of neurodevelopmental disorder 2015-11-09 criteria provided, single submitter clinical testing

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