Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608555 | SCV000724405 | likely benign | not specified | 2017-10-31 | 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. |
Ambry Genetics | RCV002413739 | SCV002717102 | likely benign | Cardiovascular phenotype | 2022-04-06 | 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. |
Genome- |
RCV002467938 | SCV002763368 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467937 | SCV002763369 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002506469 | SCV002805896 | likely benign | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2021-08-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002531587 | SCV003492623 | likely benign | RASopathy | 2023-07-03 | criteria provided, single submitter | clinical testing |