Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554627 | SCV000642034 | likely benign | MHC class I deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000554627 | SCV002804753 | likely benign | MHC class I deficiency | 2021-11-02 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000014734 | SCV000034989 | pathogenic | TAP1 deficiency, somatic | 1996-06-01 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV001725932 | SCV001963247 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725932 | SCV001973190 | uncertain significance | not provided | no assertion criteria provided | clinical testing |