Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001594067 | SCV001825361 | likely benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002070454 | SCV002449116 | likely benign | RASopathy | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004995964 | SCV005613877 | likely benign | Cardiovascular phenotype | 2024-10-15 | 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 |
RCV004551945 | SCV004714093 | likely benign | KRAS-related disorder | 2020-09-04 | 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). |