ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)

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
Baylor Genetics RCV003147938 SCV003835431 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147933 SCV003835432 uncertain significance Hypertrophic cardiomyopathy 9 2022-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147935 SCV003835839 uncertain significance Tibial muscular dystrophy 2022-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147937 SCV003835936 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147936 SCV003836009 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147934 SCV003836020 uncertain significance Dilated cardiomyopathy 1G 2022-11-07 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.