Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039475 | SCV000063160 | likely benign | not specified | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000680292 | SCV000513519 | likely benign | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078949 | SCV001002339 | likely benign | RASopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453322 | SCV002739208 | likely benign | Cardiovascular phenotype | 2022-04-19 | 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. |
ARUP Laboratories, |
RCV003741150 | SCV004562366 | likely benign | Cardiofaciocutaneous syndrome 4 | 2023-10-02 | criteria provided, single submitter | clinical testing |