ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1038+12G>A

gnomAD frequency: 0.00141  dbSNP: rs117959542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124031 SCV002450469 benign Brugada syndrome 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713144 SCV005268019 benign not provided criteria provided, single submitter not provided

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