ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.683-7C>A

gnomAD frequency: 0.00011  dbSNP: rs759453899
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473990 SCV000550357 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001696876 SCV000732691 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing

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