ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)

gnomAD frequency: 0.00151  dbSNP: rs117632905
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
Genetic Services Laboratory, University of Chicago RCV000118660 SCV000153074 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331735 SCV000472201 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000891519 SCV001035339 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891519 SCV001746977 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TRAPPC9: BP4, BP7
Ambry Genetics RCV002408623 SCV002715506 likely benign Inborn genetic diseases 2018-10-11 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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.