ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser)

gnomAD frequency: 0.00048  dbSNP: rs79386457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529757 SCV000632039 likely benign Idiopathic generalized epilepsy 2023-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960277 SCV004769553 likely benign GABRD-related condition 2022-09-14 criteria provided, single submitter 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251987 SCV001427733 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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