ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.402G>A (p.Gly134=) (rs35230590)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116986 SCV000311210 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576489 SCV000677290 benign Lafora disease 2017-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715273 SCV000846101 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116986 SCV000151107 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675701 SCV000801414 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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