Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312489 | SCV000847084 | likely benign | Inborn genetic diseases | 2016-07-05 | 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. |
Invitae | RCV000887492 | SCV001031049 | likely benign | DYRK1A-related intellectual disability syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576817 | SCV001804078 | likely benign | not provided | 2019-01-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001576817 | SCV002064070 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | DYRK1A: BP4, BP7 |
Genetic Services Laboratory, |
RCV001816752 | SCV002068782 | benign | not specified | 2017-07-21 | criteria provided, single submitter | clinical testing |