Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001400700 | SCV001602507 | likely benign | Mucopolysaccharidosis type 1 | 2022-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377607 | SCV002683873 | likely benign | Inborn genetic diseases | 2021-11-09 | 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. |