Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV001293761 | SCV001480514 | likely pathogenic | Acute megakaryoblastic leukemia in down syndrome | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442826 | SCV004167966 | pathogenic | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |