Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698177 | SCV000530670 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000542445 | SCV000651261 | likely benign | DYRK1A-related intellectual disability syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821199 | SCV002068344 | uncertain significance | not specified | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418311 | SCV002725975 | likely benign | Inborn genetic diseases | 2017-09-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Ce |
RCV001698177 | SCV005435777 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | DYRK1A: BP4, BS2 |
Prevention |
RCV004539872 | SCV004768116 | likely benign | DYRK1A-related disorder | 2019-07-18 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |