ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1081-10G>A

gnomAD frequency: 0.00010  dbSNP: rs200137318
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 RCV000229816 SCV000285626 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001705246 SCV000525198 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing

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