ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)

gnomAD frequency: 0.00005  dbSNP: rs1187337182
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 RCV000643354 SCV000765041 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729143 SCV000856785 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000729143 SCV001879673 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477422 SCV002779728 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 2021-11-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000729143 SCV003825614 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000729143 SCV004225851 uncertain significance not provided 2023-04-13 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.