ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser)

gnomAD frequency: 0.00002  dbSNP: rs757233280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563187 SCV001786084 likely benign not provided 2020-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859399 SCV002264516 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-05-22 criteria provided, single submitter clinical testing

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