ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)

gnomAD frequency: 0.00002  dbSNP: rs2054687187
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ClinVar version:
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 RCV001198748 SCV001369743 uncertain significance Migraine, familial hemiplegic, 1 2018-09-25 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,PP3.
Revvity Omics, Revvity Omics RCV003145371 SCV003830295 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing

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