Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124076 | SCV000167485 | benign | not specified | 2014-06-05 | 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. |
Invitae | RCV000550557 | SCV000627521 | likely benign | Long QT syndrome | 2023-07-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453446 | SCV002739682 | likely benign | Cardiovascular phenotype | 2020-05-26 | 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, |
RCV002483241 | SCV002794858 | likely benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-08-10 | criteria provided, single submitter | clinical testing |