ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306_308GGC[9] (p.Ala115del) (rs387906492)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471578 SCV000561865 benign Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000485479 SCV000565858 likely benign not specified 2017-11-22 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 RCV000717613 SCV000848466 benign History of neurodevelopmental disorder 2017-10-30 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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