ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) (rs72677231)

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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 RCV000040277 SCV000051724 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040277 SCV000063968 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing p.Arg13163Cys in exon 201 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.4% (234/66658) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72650031).
Genetic Services Laboratory, University of Chicago RCV000040277 SCV000153276 likely benign not specified 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000040277 SCV000237209 likely benign not specified 2017-11-09 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.
Invitae RCV000206445 SCV000261583 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253777 SCV000317480 likely benign Cardiovascular phenotype 2013-03-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040277 SCV000333472 likely benign not specified 2015-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382285 SCV000423151 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291644 SCV000423152 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346585 SCV000423153 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391601 SCV000423154 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283374 SCV000423155 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343176 SCV000423156 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 RCV000769010 SCV000900383 likely benign Cardiomyopathy 2017-03-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000206445 SCV001152905 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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