ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2593C>G (p.Arg865Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Channelopathy-Associated Epilepsy Research Center RCV003992851 SCV004809286 not provided Severe myoclonic epilepsy in infancy no assertion provided literature only

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