Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421562 | SCV000520591 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002062419 | SCV002363881 | likely benign | RASopathy | 2023-03-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467783 | SCV002763444 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467782 | SCV002763445 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV004022340 | SCV005023029 | likely benign | Cardiovascular phenotype | 2023-10-16 | 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. |