Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945872 | SCV001091936 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169451 | SCV003890417 | likely benign | Inborn genetic diseases | 2022-11-07 | 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. |
Natera, |
RCV001827037 | SCV002084462 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-05-31 | no assertion criteria provided | clinical testing |