ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) (rs62178963)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250760 SCV000317817 likely benign Cardiovascular phenotype 2012-10-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768990 SCV000900363 benign Cardiomyopathy 2017-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000040369 SCV000169298 benign not specified 2013-06-21 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 RCV000040369 SCV000153302 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337869 SCV000422761 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397404 SCV000422762 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302771 SCV000422763 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357748 SCV000422764 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390181 SCV000422765 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304152 SCV000422766 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226534 SCV000286721 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040369 SCV000064060 benign not specified 2012-02-10 criteria provided, single submitter clinical testing Arg15775Arg in exon 232 of TTN: This variant is classified as benign based on it s high frequency in the general population (dbSNP rs62178963; NHLBI Exome Sequen cing Project, http://evs.gs.washington.edu/EVS).
PreventionGenetics RCV000040369 SCV000315514 benign not specified criteria provided, single submitter clinical testing

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