Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317958 | SCV000849481 | likely benign | Inborn genetic diseases | 2017-04-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000871914 | SCV001013648 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000871914 | SCV002796272 | likely benign | Mucopolysaccharidosis, MPS-II | 2022-01-31 | criteria provided, single submitter | clinical testing |