ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1377+1G>A

dbSNP: rs886043864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV002284147 SCV002573456 pathogenic Severe myoclonic epilepsy in infancy 2020-01-09 criteria provided, single submitter clinical testing

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