Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731544 | SCV000859376 | likely benign | not specified | 2018-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000875709 | SCV001018174 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369997 | SCV002685892 | 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. |
Fulgent Genetics, |
RCV000875709 | SCV002800028 | likely benign | Mucopolysaccharidosis, MPS-II | 2021-10-13 | criteria provided, single submitter | clinical testing |