ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.267G>A (p.Val89=)

gnomAD frequency: 0.00009  dbSNP: rs377536787
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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 RCV003523043 SCV001066478 likely benign Idiopathic generalized epilepsy 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978033 SCV004790431 likely benign GABRD-related disorder 2019-04-27 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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