ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4089+18T>G

dbSNP: rs1600198282
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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 RCV001198987 SCV001369982 uncertain significance Migraine, familial hemiplegic, 1 2018-11-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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