ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.10625G>A (p.Arg3542Gln)

gnomAD frequency: 0.00019  dbSNP: rs141926114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152469 SCV000201578 uncertain significance not specified 2013-09-12 criteria provided, single submitter clinical testing The Arg3542Gln variant in TTN has not been reported in individuals with cardiomy opathy or been previously identified by our laboratory. This variant has been id entified in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS/; dbSNP rs141926114). Computational anal yses are limited for this variant. Additional information is needed to fully ass ess the clinical significance of the Arg3542Gln variant.

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