ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)

dbSNP: rs1199275549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171940 SCV001334848 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001809987 SCV002059736 uncertain significance Developmental and epileptic encephalopathy, 42 2019-11-21 criteria provided, single submitter clinical testing

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