Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194127 | SCV000247236 | likely benign | not specified | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001062582 | SCV001227393 | benign | DYRK1A-related intellectual disability syndrome | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165432 | SCV003883849 | likely benign | Inborn genetic diseases | 2023-02-22 | 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. |