ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.393G>A (p.Glu131=) (rs61758155)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116985 SCV000151106 likely benign not specified 2014-03-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116985 SCV000227368 likely benign not specified 2015-02-27 criteria provided, single submitter clinical testing
Invitae RCV000675702 SCV000288974 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675702 SCV000613258 benign not provided 2018-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718404 SCV000849267 likely benign Seizures 2016-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675702 SCV000801415 likely benign not provided 2018-03-23 no assertion criteria provided clinical testing

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