ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) (rs1129647)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117109 SCV000151269 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117109 SCV000305540 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328710 SCV000456005 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117109 SCV000702260 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711719 SCV000842107 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715265 SCV000846093 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing

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