ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)

dbSNP: rs2057372365
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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 RCV001197947 SCV001368732 likely pathogenic Migraine, familial hemiplegic, 1 2016-01-01 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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