Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780754 | SCV000918267 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002067373 | SCV002386973 | likely benign | RASopathy | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360900 | SCV002623869 | likely benign | Cardiovascular phenotype | 2022-03-03 | 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- |
RCV002468046 | SCV002763194 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468045 | SCV002763195 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |