Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000229663 | SCV000285583 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000433169 | SCV000512446 | benign | not specified | 2015-05-18 | 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. |
| Ambry Genetics | RCV000621209 | SCV000736375 | likely benign | Cardiovascular phenotype | 2016-12-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV002500766 | SCV002812527 | likely benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2022-01-21 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV003736655 | SCV004565267 | benign | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing |