ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) (rs187930476)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116984 SCV000151105 benign not specified 2015-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000116984 SCV000168339 benign not specified 2012-06-19 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116984 SCV000224495 benign not specified 2018-04-09 criteria provided, single submitter clinical testing
Invitae RCV001082888 SCV000288971 benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675704 SCV000841995 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715160 SCV000845988 benign Seizures 2017-02-21 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000675704 SCV001154901 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneReviews RCV000192024 SCV000196903 uncertain significance Lafora disease 2015-01-22 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000192024 SCV000734480 likely benign Lafora disease no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675704 SCV000801417 benign not provided 2017-08-09 no assertion criteria provided clinical testing

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