ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1391-64del

gnomAD frequency: 0.29223  dbSNP: rs34277236
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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 RCV000860168 SCV001000123 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554440 SCV001775685 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing

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