Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669300 | SCV000794041 | uncertain significance | Non-ketotic hyperglycinemia | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669300 | SCV001037073 | likely benign | Non-ketotic hyperglycinemia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531223 | SCV003620028 | likely benign | Inborn genetic diseases | 2022-06-15 | 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. |
Prevention |
RCV003892519 | SCV004711269 | likely benign | AMT-related condition | 2019-06-18 | criteria provided, single submitter | 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). |
Natera, |
RCV000669300 | SCV001456315 | likely benign | Non-ketotic hyperglycinemia | 2020-09-16 | no assertion criteria provided | clinical testing |