ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)

gnomAD frequency: 0.00004  dbSNP: rs202090888
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466327 SCV000542429 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481373 SCV002786312 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139611 SCV003827216 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147468 SCV003835714 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147464 SCV003835794 uncertain significance Hypertrophic cardiomyopathy 9 2022-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147465 SCV003835895 uncertain significance Dilated cardiomyopathy 1G 2022-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147469 SCV003835962 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147466 SCV003836072 uncertain significance Tibial muscular dystrophy 2022-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147467 SCV003836073 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003139611 SCV004701947 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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.