ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.617+17G>A

gnomAD frequency: 0.27035  dbSNP: rs1544515
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079306 SCV000111176 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000079306 SCV000167475 benign not specified 2011-07-10 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.
PreventionGenetics, part of Exact Sciences RCV000079306 SCV000305457 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811362 SCV001473379 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554437 SCV001775682 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002055109 SCV002437897 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing

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