Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003424847 | SCV004129475 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | CBL: BP4, BP7 |
Labcorp Genetics |
RCV003778380 | SCV004621603 | likely benign | RASopathy | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004992607 | SCV005545813 | likely benign | Cardiovascular phenotype | 2024-11-23 | 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 |
RCV004540661 | SCV004757776 | likely benign | CBL-related disorder | 2019-10-16 | 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). |