Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001822794 | SCV002070421 | uncertain significance | not specified | 2021-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002370341 | SCV002667716 | likely benign | Cardiovascular phenotype | 2019-09-11 | 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. |
Labcorp Genetics |
RCV002542691 | SCV003024281 | likely benign | RASopathy | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536347 | SCV004710842 | likely benign | CBL-related disorder | 2023-02-22 | 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). |