ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) (rs72648969)

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Total submissions: 15
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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 RCV000039973 SCV000051721 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039973 SCV000063664 likely benign not specified 2015-05-21 criteria provided, single submitter clinical testing p.Arg6301Gln in exon 75 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (203/66630) of European chromo somes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs72648969).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039973 SCV000232429 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000039973 SCV000238319 benign not specified 2017-03-09 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 RCV000039973 SCV000249243 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV000205601 SCV000261986 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039973 SCV000315422 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265724 SCV000424268 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320876 SCV000424269 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380195 SCV000424270 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267036 SCV000424271 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325323 SCV000424272 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384525 SCV000424273 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770074 SCV000901500 benign Cardiomyopathy 2017-09-15 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000770074 SCV000995629 benign Cardiomyopathy 2019-02-26 criteria provided, single submitter clinical testing

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