ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.-4del (rs771282908)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715217 SCV000846045 likely benign Seizures 2018-03-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000398655 SCV000456061 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313505 SCV000456062 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing

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