ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.172+8G>C

gnomAD frequency: 0.00001  dbSNP: rs1451838565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193755 SCV002484237 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-10-13 criteria provided, single submitter clinical testing

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