ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) (rs72648929)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245443 SCV000317444 likely benign Cardiovascular phenotype 2012-10-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000039869 SCV000615999 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039869 SCV000055074 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769081 SCV000900454 likely benign Cardiomyopathy 2016-09-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416068 SCV000493408 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039869 SCV000114326 benign not specified 2013-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000039869 SCV000238214 benign not specified 2015-09-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000356589 SCV000424682 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273361 SCV000424683 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331058 SCV000424684 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369337 SCV000424685 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277012 SCV000424686 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325090 SCV000424687 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459774 SCV000555638 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039869 SCV000063560 benign not specified 2017-10-12 criteria provided, single submitter clinical testing p.Val3816Leu in exon 48 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (88/10126) of Ashkenazi chromo somes, including 6 homozygotes, by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs72648929). ACMG/AMP Criteria applied: BA1 (Richards 2015).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.