ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) (rs72647894)

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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 RCV000082466 SCV000051779 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040905 SCV000064596 benign not specified 2015-02-10 criteria provided, single submitter clinical testing p.Arg3120Gln in exon 40 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (77/6606) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs72647894).
GeneDx RCV000040905 SCV000238058 benign not specified 2016-08-23 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 RCV000040905 SCV000249289 uncertain significance not specified 2014-06-03 criteria provided, single submitter clinical testing
Invitae RCV000082466 SCV000286917 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247307 SCV000318094 uncertain significance Cardiovascular phenotype 2012-12-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040905 SCV000332662 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385864 SCV000424814 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282222 SCV000424815 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317271 SCV000424816 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371851 SCV000424817 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286768 SCV000424818 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341793 SCV000424819 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769103 SCV000900476 likely benign Cardiomyopathy 2017-05-29 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852925 SCV000995669 benign Atrial fibrillation 2017-03-15 criteria provided, single submitter clinical testing

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