ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala)

gnomAD frequency: 0.00130  dbSNP: rs544924244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590156 SCV001825050 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001590156 SCV004137966 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CACNA1A: BS1

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