ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.173-13G>C

gnomAD frequency: 0.00002  dbSNP: rs371144939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698083 SCV000725160 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064192 SCV002480516 benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-11-27 criteria provided, single submitter clinical testing

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