ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)

dbSNP: rs1696653174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001095650 SCV001251405 uncertain significance Severe myoclonic epilepsy in infancy 2019-10-01 criteria provided, single submitter clinical testing

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