ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1671G>A (p.Thr557=) (rs190910161)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082603 SCV000114645 benign not specified 2013-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000082603 SCV000167032 benign not specified 2012-12-07 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 RCV000082603 SCV000192088 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415758 SCV000493189 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000532975 SCV000652323 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
Athena Diagnostics Inc RCV000532975 SCV000677133 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 RCV000718339 SCV000849201 benign History of neurodevelopmental disorder 2017-05-22 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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