ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1152G>A (p.Pro384=)

gnomAD frequency: 0.00034  dbSNP: rs77557135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086188 SCV001121628 likely benign Idiopathic generalized epilepsy 2023-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000973843 SCV001143979 likely benign not provided 2018-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972956 SCV004787461 likely benign GABRD-related condition 2022-09-07 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).

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