ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.2267+15del

gnomAD frequency: 0.00980  dbSNP: rs201392836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810370 SCV002056092 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810370 SCV002429536 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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