ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306_308GGC[8] (p.Ala114_Ala115del) (rs387906492)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145053 SCV000192093 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145053 SCV000227552 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV000228763 SCV000291347 benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000145053 SCV000564594 likely benign not specified 2017-01-13 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.

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