Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001478698 | SCV001682973 | likely benign | Mucopolysaccharidosis type 1 | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377821 | SCV002683870 | likely benign | Inborn genetic diseases | 2022-02-20 | 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, |
RCV001478698 | SCV002075319 | likely benign | Mucopolysaccharidosis type 1 | 2020-11-18 | no assertion criteria provided | clinical testing |