ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1068C>T (p.Ser356=)

gnomAD frequency: 0.00003  dbSNP: rs369761963
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 RCV000646111 SCV000767868 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721519 SCV005331293 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing GABRB3: BP4, BP7

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