ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1105C>T

gnomAD frequency: 0.00038  dbSNP: rs138790561
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
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172595 SCV000051426 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154856 SCV000204538 benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Thr229Ile variant in TMPO is classified as benign because it has been identified in 2% (639/30780) of South Asian chromosomes, including 10 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Invitae RCV001080218 SCV000646400 benign Loeys-Dietz syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312687 SCV000736465 benign Inborn genetic diseases 2017-11-03 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000172595 SCV000884702 benign not provided 2020-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000172595 SCV001884793 benign not provided 2015-03-03 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.