ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.773-4_773-3dup

dbSNP: rs35401252
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000080088 SCV000309563 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000527724 SCV000630178 benign Arthrogryposis, distal, type 1A 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000080088 SCV000729989 benign not specified 2016-03-21 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.
Fulgent Genetics, Fulgent Genetics RCV002498408 SCV002804531 likely benign Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion 2022-03-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000080088 SCV000111983 benign not specified 2013-07-24 no assertion criteria provided 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.