ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.675C>T (p.Phe225=)

gnomAD frequency: 0.00012  dbSNP: rs201004195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585015 SCV000530212 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585015 SCV000692803 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462049 SCV001665960 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-08-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942423 SCV004761530 likely benign GABRB3-related disorder 2019-03-20 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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