ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) (rs149506027)

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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 RCV000082342 SCV000114305 benign not specified 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000082342 SCV000169712 benign not specified 2016-07-15 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 RCV000082342 SCV000195339 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV000144339 SCV000559144 benign Angelman syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714144 SCV000844824 benign not provided 2017-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719952 SCV000850826 likely benign History of neurodevelopmental disorder 2016-12-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Baylor Genetics RCV000144339 SCV000188516 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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