ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)

dbSNP: rs121918789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328668 SCV001519836 uncertain significance Migraine, familial hemiplegic, 3 2019-11-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001507578 SCV001713203 likely pathogenic not provided 2019-05-20 criteria provided, single submitter clinical testing PS1, PM2, PP2, PP3

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