Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081804 | SCV000628112 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316480 | SCV000849651 | benign | Inborn genetic diseases | 2016-04-15 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Mayo Clinic Laboratories, |
RCV000675880 | SCV000801605 | benign | not provided | 2017-09-27 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001834749 | SCV002084487 | benign | Mucopolysaccharidosis, MPS-III-A | 2020-07-21 | no assertion criteria provided | clinical testing |