ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)

dbSNP: rs1697433995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197624 SCV001368403 likely pathogenic Migraine, familial hemiplegic, 3 2020-01-23 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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