ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=)

gnomAD frequency: 0.00001  dbSNP: rs745440661
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996769 SCV001151683 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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