ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3990-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002286483 SCV002576441 pathogenic Migraine, familial hemiplegic, 1 2022-08-30 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS1_SUP, PM2_SUP

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