Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433815 | SCV000523884 | benign | not specified | 2017-02-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000550099 | SCV000651250 | benign | DYRK1A-related intellectual disability syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311486 | SCV000845963 | benign | Inborn genetic diseases | 2016-10-19 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV003437180 | SCV004153646 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | DYRK1A: BS1, BS2 |
ARUP Laboratories, |
RCV000550099 | SCV004562938 | benign | DYRK1A-related intellectual disability syndrome | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912684 | SCV004731090 | benign | DYRK1A-related condition | 2022-05-19 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |