Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560132 | SCV000651268 | likely benign | DYRK1A-related intellectual disability syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316571 | SCV000850669 | likely benign | Inborn genetic diseases | 2017-05-19 | 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 |
RCV001576928 | SCV001804211 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing |