ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38378A>G (p.Lys12793Arg)

gnomAD frequency: 0.00028  dbSNP: rs189389531
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464634 SCV000555550 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001548271 SCV001768149 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840607 SCV002101280 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840608 SCV002101282 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840609 SCV002101283 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840606 SCV002101284 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.