ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) (rs147145506)

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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 RCV000082351 SCV000114314 benign not specified 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000082351 SCV000169708 benign not specified 2012-03-05 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 RCV000082351 SCV000195380 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV000227142 SCV000291318 benign Angelman syndrome 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082351 SCV000315389 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715084 SCV000845909 benign History of neurodevelopmental disorder 2016-04-27 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;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000082351 SCV000256055 likely benign not specified 2015-03-06 no assertion criteria provided clinical testing

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