ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.*304del

dbSNP: rs547262225
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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 RCV000349133 SCV000456017 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001556502 SCV001778094 likely benign not provided 2018-11-15 criteria provided, single submitter clinical testing

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