ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.1901+74C>T

gnomAD frequency: 0.02511  dbSNP: rs118175552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757604 SCV002005753 likely benign not provided 2021-03-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001757604 SCV005224897 likely benign not provided criteria provided, single submitter not provided

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