ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.87C>T (p.Gly29=)

gnomAD frequency: 0.00109  dbSNP: rs79685811
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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 RCV000945487 SCV001091507 benign Idiopathic generalized epilepsy 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411905 SCV004127953 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing GABRD: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925852 SCV004737882 likely benign GABRD-related disorder 2024-02-05 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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