ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4956+17G>A

gnomAD frequency: 0.00103  dbSNP: rs200706151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001615108 SCV001157656 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001615108 SCV001842153 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068757 SCV002367613 benign Long QT syndrome 2025-01-29 criteria provided, single submitter clinical testing

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