ClinVar Miner

Submissions for variant NM_001958.4(EEF1A2):c.1266C>A (p.Gly422=) (rs202102758)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421428 SCV000522864 benign not specified 2016-10-05 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.
Invitae RCV001083677 SCV000656422 benign Epileptic encephalopathy, early infantile, 33 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711594 SCV000841974 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715709 SCV000846540 likely benign Seizures 2016-03-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000711594 SCV001743200 likely benign not provided no assertion criteria provided clinical testing

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