ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.659G>A (p.Arg220His)

gnomAD frequency: 0.01721  dbSNP: rs41307846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535201 SCV000632048 benign Idiopathic generalized epilepsy 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998099 SCV000842120 benign not specified 2024-09-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711732 SCV005258589 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000017599 SCV000037872 benign Generalized epilepsy with febrile seizures plus type 5 2005-06-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974836 SCV004794089 benign GABRD-related disorder 2019-04-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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