ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3157-90A>G

gnomAD frequency: 0.07002  dbSNP: rs758560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860351 SCV001000380 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554535 SCV001775789 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001672958 SCV001889203 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672958 SCV005234689 benign not provided criteria provided, single submitter not provided

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