ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000300426 SCV000456059 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334501 SCV000456060 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716995 SCV000847840 benign Seizures 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification

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