ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44548+9A>G

gnomAD frequency: 0.00055  dbSNP: rs372725070
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 RCV000438061 SCV000515135 benign not specified 2015-09-22 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.
Invitae RCV000459109 SCV000555051 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000438061 SCV000616086 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000438061 SCV000857079 likely benign not specified 2017-09-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840525 SCV002100708 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840526 SCV002100710 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840527 SCV002100711 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840524 SCV002100712 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter 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.