ClinVar Miner

Submissions for variant NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)

gnomAD frequency: 0.00827  dbSNP: rs34179337
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
Genetic Services Laboratory, University of Chicago RCV000118667 SCV000153081 benign not specified 2013-06-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118667 SCV000314796 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261001 SCV000472197 uncertain significance Intellectual Disability, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313929 SCV000847434 likely benign Inborn genetic diseases 2016-07-29 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.
Invitae RCV000956678 SCV001103454 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000956678 SCV001767489 likely benign not provided 2020-11-13 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.