ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)

dbSNP: rs121917977
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137600 SCV003820745 uncertain significance not provided 2020-11-21 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059438 SCV000090962 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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