ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.510+12TTG[12]

dbSNP: rs10482769
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
Illumina Laboratory Services, Illumina RCV000259701 SCV000354240 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625018 SCV000743538 benign Loeys-Dietz syndrome 4 2016-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001668383 SCV001891366 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625018 SCV002349995 likely benign Loeys-Dietz syndrome 4 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213335 SCV000271305 not provided not specified 2015-06-26 no assertion provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625018 SCV000745723 benign Loeys-Dietz syndrome 4 2016-03-23 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.