Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864037 | SCV001004782 | benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566764 | SCV001790331 | likely benign | not provided | 2021-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399878 | SCV002708279 | likely benign | Inborn genetic diseases | 2014-11-24 | 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. |
Prevention |
RCV004538213 | SCV004747813 | likely benign | ATRX-related disorder | 2019-06-25 | 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, |
RCV000864037 | SCV002089013 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2020-12-17 | no assertion criteria provided | clinical testing |