ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.399C>T (p.Gly133=)

gnomAD frequency: 0.00005  dbSNP: rs754203594
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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 RCV000703909 SCV000832835 benign Epileptic encephalopathy 2024-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945723 SCV004765829 likely benign GABBR2-related disorder 2019-12-06 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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