Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586166 | SCV000698331 | likely benign | not specified | 2019-09-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002061979 | SCV002454845 | likely benign | RASopathy | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350415 | SCV002652045 | likely benign | Cardiovascular phenotype | 2019-12-15 | 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. |
Prevention |
RCV003983135 | SCV004799735 | likely benign | BRAF-related disorder | 2021-10-29 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |