ClinVar Miner

Submissions for variant NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) (rs197922)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715155 SCV000845983 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711830 SCV000842235 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117154 SCV000229032 benign not specified 2014-07-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117154 SCV000151318 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.
Illumina Clinical Services Laboratory,Illumina RCV000276471 SCV000403687 benign Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117154 SCV000310062 benign not specified criteria provided, single submitter clinical testing

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