ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)

dbSNP: rs2056767982
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Total submissions: 3
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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 RCV001253443 SCV001429150 uncertain significance Developmental and epileptic encephalopathy, 42 2017-06-29 criteria provided, single submitter clinical testing
Wendy Chung Laboratory, Columbia University Medical Center RCV002227259 SCV002506533 likely pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV004762026 SCV005368471 likely pathogenic Developmental and epileptic encephalopathy, 2 2023-06-07 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM5,PS4_SUP,PM2_SUP,PP2,PP3

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