ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.81-3C>T

gnomAD frequency: 0.00002  dbSNP: rs746996582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703668 SCV000521043 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24999380)
Labcorp Genetics (formerly Invitae), Labcorp RCV001436678 SCV001639522 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-15 criteria provided, single submitter clinical testing

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