ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1686+6T>G (rs369766351)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001030827 SCV000546124 likely benign Hereditary hemorrhagic telangiectasia 2020-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000827113 SCV000968735 likely benign not provided 2018-05-08 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000462533 SCV000734643 likely benign Hereditary hemorrhagic telangiectasia type 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579783 SCV001808498 benign not specified 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.