Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079293 | SCV000111163 | uncertain significance | not provided | 2013-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078863 | SCV000627550 | likely benign | Long QT syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336231 | SCV002635290 | likely benign | Cardiovascular phenotype | 2019-12-20 | 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. |