ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.719-4G>A (rs145030227)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116987 SCV000151108 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000116987 SCV000168341 benign not specified 2014-02-11 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 RCV000116987 SCV000202670 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV000233325 SCV000288976 benign Progressive myoclonic epilepsy 2017-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716666 SCV000847508 likely benign Seizures 2016-08-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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