Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000043644 | SCV000063172 | likely benign | not specified | 2008-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000680359 | SCV000529425 | likely benign | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002054865 | SCV002488777 | likely benign | RASopathy | 2022-05-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000043644 | SCV002547602 | likely benign | not specified | 2022-05-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336167 | SCV002639428 | likely benign | Cardiovascular phenotype | 2022-07-11 | 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. |