ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.15C>T (p.Ala5=)

gnomAD frequency: 0.00001  dbSNP: rs1453164730
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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 RCV001478245 SCV001682511 likely benign Idiopathic generalized epilepsy 2024-09-10 criteria provided, single submitter clinical testing

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