Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880255 | SCV001023335 | benign | Mucopolysaccharidosis type 1 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399975 | SCV002713919 | likely benign | Inborn genetic diseases | 2021-01-04 | 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, |
RCV000880255 | SCV002075386 | likely benign | Mucopolysaccharidosis type 1 | 2018-05-28 | no assertion criteria provided | clinical testing |