ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1081-10G>T

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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 RCV003802522 SCV004605724 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757614 SCV005355454 likely benign GABRB3-related disorder 2024-09-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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