Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862818 | SCV001003372 | benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692300 | SCV001914901 | benign | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372402 | SCV002668331 | benign | Inborn genetic diseases | 2017-06-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Natera, |
RCV000862818 | SCV002089016 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2019-10-24 | no assertion criteria provided | clinical testing |