Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988910 | SCV001138823 | uncertain significance | Developmental and epileptic encephalopathy, 67 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV002466413 | SCV002761567 | likely benign | Primary myelofibrosis | 2021-08-27 | criteria provided, single submitter | clinical testing | BS1-supp, PP3 |
KCCC/NGS Laboratory, |
RCV000023398 | SCV004101788 | likely benign | Thrombocythemia 1 | 2023-05-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001529953 | SCV004237254 | uncertain significance | not provided | 2021-11-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023398 | SCV000044689 | pathogenic | Thrombocythemia 1 | 2010-08-12 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV001529953 | SCV001744338 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001529953 | SCV001797661 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529953 | SCV001959983 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529953 | SCV001974432 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Molecular Oncology - |
RCV001843460 | SCV002103135 | uncertain significance | Hepatoblastoma | no assertion criteria provided | research |