Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318868 | SCV000851821 | benign | Inborn genetic diseases | 2018-09-02 | 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. |
Eurofins Ntd Llc |
RCV000731543 | SCV000859375 | likely benign | not specified | 2018-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000875710 | SCV001018175 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000875710 | SCV002805690 | likely benign | Mucopolysaccharidosis, MPS-II | 2021-10-13 | criteria provided, single submitter | clinical testing |