Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001431915 | SCV001634677 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002405012 | SCV002711200 | likely benign | Inborn genetic diseases | 2021-09-26 | 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. |
Natera, |
RCV001431915 | SCV002075388 | likely benign | Mucopolysaccharidosis type 1 | 2019-04-05 | no assertion criteria provided | clinical testing |