ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.363G>A (p.Val121=)

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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 RCV005152360 SCV005781600 likely benign Progressive myoclonic epilepsy 2024-04-11 criteria provided, single submitter clinical testing

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