ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=)

dbSNP: rs2057413345
Minimum review status: Collection method:
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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
GeneDx RCV001560683 SCV001783141 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001560683 SCV003918076 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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