Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553293 | SCV000627530 | likely benign | Long QT syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617397 | SCV000736121 | likely benign | Cardiovascular phenotype | 2017-03-23 | 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 |
RCV001541231 | SCV001759205 | likely benign | not provided | 2019-10-30 | criteria provided, single submitter | clinical testing |