ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1662C>T (p.Thr554=)

gnomAD frequency: 0.00026  dbSNP: rs144905072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000959686 SCV001106606 likely benign Epileptic encephalopathy 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001539532 SCV001757319 benign not provided 2019-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970812 SCV004781035 likely benign GABBR2-related disorder 2022-09-16 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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