ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.373T>C (p.Leu125=) (rs61734190)

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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 RCV000082349 SCV000114312 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000082349 SCV000169706 benign not specified 2016-06-20 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 RCV000082349 SCV000195372 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000144348 SCV000559150 benign Angelman syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716180 SCV000847017 benign History of neurodevelopmental disorder 2016-03-16 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
Baylor Genetics RCV000144348 SCV000188525 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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