ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2775+4G>A

gnomAD frequency: 0.00086  dbSNP: rs548681281
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841843 SCV000983832 likely benign not provided 2018-04-13 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 RCV001089062 SCV001071028 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840205 SCV002101567 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840206 SCV002101569 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840207 SCV002101570 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840204 SCV002101571 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157569 SCV000207315 uncertain significance Left ventricular noncompaction cardiomyopathy 2014-10-14 no assertion criteria provided clinical testing
Blueprint Genetics RCV000157570 SCV000207316 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-10-14 no assertion criteria provided clinical testing

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.