ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2340-72G>A

gnomAD frequency: 0.03879  dbSNP: rs11062281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860536 SCV001000614 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001672961 SCV001882643 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672961 SCV005234678 benign not provided criteria provided, single submitter not provided

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