Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689513 | SCV000817167 | benign | Neurodegeneration with brain iron accumulation 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315990 | SCV000849373 | likely benign | Inborn genetic diseases | 2017-04-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Gene |
RCV001574983 | SCV001801889 | likely benign | not provided | 2021-07-23 | criteria provided, single submitter | clinical testing |