ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5445-586C>T (rs10848683)

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Total submissions: 2
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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 RCV000124099 SCV000050807 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000124099 SCV000167508 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.

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