ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1116G>T (p.Leu372=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002949090 SCV003279041 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883857 SCV004702059 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing GABRB3: BP4, BP7

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