Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000980762 | SCV001128720 | likely benign | Severe combined immunodeficiency due to DNA-PKcs deficiency | 2023-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400150 | SCV002710111 | likely benign | Inborn genetic diseases | 2022-03-07 | 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 |
RCV003972980 | SCV004787712 | likely benign | PRKDC-related condition | 2019-02-26 | 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). |