Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000242319 | SCV000318259 | likely benign | Cardiovascular phenotype | 2018-11-14 | 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. |
Invitae | RCV000862814 | SCV001003368 | benign | Long QT syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711763 | SCV001943949 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing |