ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6472+10C>T

gnomAD frequency: 0.00575  dbSNP: rs369182277
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152150 SCV000200849 benign not specified 2015-02-18 criteria provided, single submitter clinical testing c.6472+10C>T in intron 18 of TRIOBP: This variant is not expected to have clinic al significance because it is not located within the conserved region of the spl ice consensus sequence and has been identified in 5.1% (40/774) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ).
GeneDx RCV000152150 SCV000726938 likely benign not specified 2018-02-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000973626 SCV001121394 benign not provided 2024-01-25 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.