ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1290G>T (p.Leu430=)

dbSNP: rs377321205
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287575 SCV001474277 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2020-05-15 criteria provided, single submitter clinical testing
Invitae RCV001459020 SCV001662853 likely benign Hereditary hemorrhagic telangiectasia 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294187 SCV004005050 likely benign Cardiovascular phenotype 2023-05-01 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.

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.