ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) (rs141258018)

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Total submissions: 11
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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 RCV000118797 SCV000051226 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000317280 SCV000341943 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000317280 SCV000238055 benign not specified 2017-04-21 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.
Genetic Services Laboratory, University of Chicago RCV000118797 SCV000153420 uncertain significance not provided 2013-10-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395255 SCV000424826 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313328 SCV000424827 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368092 SCV000424828 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273543 SCV000424829 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319315 SCV000424830 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355456 SCV000424831 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462985 SCV000555538 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-11-26 criteria provided, single submitter clinical testing

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