ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) (rs72648950)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039919 SCV000063610 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000039919 SCV000169601 benign not specified 2013-03-22 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.
PreventionGenetics,PreventionGenetics RCV000039919 SCV000315412 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247482 SCV000318154 benign Cardiovascular phenotype 2013-01-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039919 SCV000332561 benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318399 SCV000424478 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373010 SCV000424479 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259873 SCV000424480 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333829 SCV000424481 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388195 SCV000424482 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293991 SCV000424483 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459765 SCV000555074 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769067 SCV000900440 benign Cardiomyopathy 2015-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039919 SCV000153184 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.