Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000528960 | SCV000659092 | likely benign | RASopathy | 2022-07-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384267 | SCV002695516 | likely benign | Cardiovascular phenotype | 2020-10-22 | 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. |
Revvity Omics, |
RCV003144379 | SCV003829281 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530587 | SCV004751799 | likely benign | CBL-related disorder | 2023-12-18 | 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). |