ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.414G>A (p.Thr138=)

gnomAD frequency: 0.00480  dbSNP: rs77892827
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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 RCV000543716 SCV000632043 benign Idiopathic generalized epilepsy 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925609 SCV004744731 benign GABRD-related disorder 2019-09-09 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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