Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905535 | SCV001050122 | benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354735 | SCV002657519 | likely benign | Inborn genetic diseases | 2022-02-12 | 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. |