ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.3807+59T>C

gnomAD frequency: 0.00608  dbSNP: rs561179246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799890 SCV002043900 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001799890 SCV005224912 likely benign not provided criteria provided, single submitter not provided

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