ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1338T>C (p.Asn446=)

gnomAD frequency: 0.00005  dbSNP: rs370026053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698088 SCV000725398 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000646110 SCV000767867 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720844 SCV000851728 likely benign Seizure 2017-05-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
PreventionGenetics, part of Exact Sciences RCV003953062 SCV004770950 likely benign GABRB3-related disorder 2020-01-13 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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