Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457863 | SCV000562871 | likely benign | Long QT syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618772 | SCV000737782 | likely benign | Cardiovascular phenotype | 2017-02-24 | 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. |
Gene |
RCV001672799 | SCV001889251 | benign | not provided | 2015-03-27 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001700193 | SCV001921446 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001672799 | SCV001952211 | likely benign | not provided | no assertion criteria provided | clinical testing |