Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000471783 | SCV000560890 | likely benign | Costello syndrome | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576338 | SCV001803502 | likely benign | not provided | 2019-04-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004992254 | SCV005600169 | likely benign | Cardiovascular phenotype | 2024-07-14 | 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. |