ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.-117GACTCG[3]

dbSNP: rs527890421
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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 RCV000369641 SCV000456000 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311776 SCV004011634 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GABRA1: BS1

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