ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.602+3_602+6del

dbSNP: rs1698937795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198246 SCV001369118 likely pathogenic Migraine, familial hemiplegic, 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Mendelics RCV002249785 SCV002519311 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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