ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5445-584A>G

gnomAD frequency: 0.80326  dbSNP: rs10774053
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000124100 SCV000050808 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000124100 SCV000167509 benign not specified 2011-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001554656 SCV001775928 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000124100 SCV001978666 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000124100 SCV001978858 benign not specified no assertion criteria provided clinical testing

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