ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1314G>C (p.Ala438=)

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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 RCV005205155 SCV005846102 likely benign Idiopathic generalized epilepsy 2025-01-19 criteria provided, single submitter clinical testing

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