Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153949 | SCV000203567 | uncertain significance | not provided | 2014-03-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002056048 | SCV002429421 | likely benign | RASopathy | 2023-05-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162625 | SCV003913394 | likely benign | Cardiovascular phenotype | 2023-02-11 | 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. |