ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4444-2A>G (rs863225036)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201155 SCV000255830 pathogenic Severe myoclonic epilepsy in infancy 2013-03-27 criteria provided, single submitter clinical testing

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