ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.681C>T (p.Ala227=) (rs61758156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461850 SCV000562551 likely benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000616752 SCV000728385 likely benign not specified 2017-06-28 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.
Ambry Genetics RCV000720425 SCV000851302 likely benign Seizures 2016-10-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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