Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002053902 | SCV002346573 | likely benign | RASopathy | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444653 | SCV002612522 | likely benign | Cardiovascular phenotype | 2019-09-17 | 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- |
RCV002467621 | SCV002763231 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467620 | SCV002763232 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000157698 | SCV000207684 | uncertain significance | not provided | 2015-01-15 | no assertion criteria provided | clinical testing |