Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000970565 | SCV001118152 | likely benign | MHC class I deficiency | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000970565 | SCV002796265 | likely benign | MHC class I deficiency | 2022-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442135 | SCV004169433 | uncertain significance | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing | Has not been previously reported as a pathogenic or benign germline variant to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Liu2020[CaseReport]) |
Prevention |
RCV003928489 | SCV004742455 | benign | TAP2-related disorder | 2019-02-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |