Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002503173 | SCV002813373 | uncertain significance | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 2022-04-26 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001723292 | SCV005188535 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723292 | SCV001958900 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723292 | SCV001965422 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinic of Clinical Immunology with Stem Cell Bank, |
RCV002283554 | SCV002573421 | likely pathogenic | Granulomatous disease, chronic, X-linked | 2022-05-01 | no assertion criteria provided | clinical testing |