Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698210 | SCV000526954 | likely benign | not provided | 2022-06-15 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV000649331 | SCV000771158 | likely benign | DYRK1A-related intellectual disability syndrome | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451009 | SCV002615085 | likely benign | Inborn genetic diseases | 2018-01-22 | 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. |