Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000655003 | SCV000776920 | likely benign | RASopathy | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692254 | SCV001914211 | benign | not provided | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467977 | SCV002763531 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467976 | SCV002763532 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV004025946 | SCV005023714 | likely benign | Cardiovascular phenotype | 2023-11-01 | 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. |