ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.264G>A (p.Thr88=)

gnomAD frequency: 0.00026  dbSNP: rs200593470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949189 SCV001095433 benign Idiopathic generalized epilepsy 2025-01-10 criteria provided, single submitter clinical testing

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