Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180513 | SCV000232970 | uncertain significance | not provided | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510596 | SCV001717676 | benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444721 | SCV002753701 | likely benign | Inborn genetic diseases | 2018-01-26 | 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. |
Natera, |
RCV001510596 | SCV002087313 | likely benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |