ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) (rs147399860)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177234 SCV000229076 uncertain significance not provided 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000187382 SCV000240967 likely benign not specified 2017-12-19 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000177234 SCV000280892 likely benign not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001083180 SCV000288975 likely benign Progressive myoclonic epilepsy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718135 SCV000848997 likely benign Seizures 2019-01-28 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Other data supporting benign classification
Athena Diagnostics Inc RCV000177234 SCV001143867 likely benign not provided 2019-04-10 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252481 SCV001428238 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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