ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.578C>T (p.Thr193Met)

dbSNP: rs775442178
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231269 SCV000629573 likely benign Hereditary hemorrhagic telangiectasia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001764537 SCV002000212 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 458349; Landrum et al., 2016)

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.