Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860855 | SCV001001022 | benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000860855 | SCV001439477 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2018-01-01 | criteria provided, single submitter | research | BS1 + BP2 |
ARUP Laboratories, |
RCV000860855 | SCV001474228 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2021-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001569431 | SCV001793505 | likely benign | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32573726, 30578397) |
Ambry Genetics | RCV002409011 | SCV002672205 | likely benign | Cardiovascular phenotype | 2021-03-31 | 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. |
Fulgent Genetics, |
RCV000860855 | SCV002799396 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001569431 | SCV001920306 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001569431 | SCV001958703 | likely benign | not provided | no assertion criteria provided | clinical testing |