Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427745 | SCV000521685 | likely benign | not specified | 2015-11-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001421631 | SCV001624160 | likely benign | RASopathy | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467785 | SCV002763268 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467784 | SCV002763269 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV004022353 | SCV005023782 | likely benign | Cardiovascular phenotype | 2023-12-29 | 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. |