ClinVar Miner

Submissions for variant NM_000806.5(GABRA1):c.-438del

dbSNP: rs112361424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343787 SCV000455991 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263638 SCV002545371 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing GABRA1: BP4, BS1

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