Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269705 | SCV001449898 | pathogenic | not provided | 2017-09-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001269705 | SCV001780918 | likely pathogenic | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 276 amino acids are replaced with 76 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32855275, 29861846, 20970189, 21354046, 31540291) |
Genomic Diagnostics Laboratory, |
RCV002282506 | SCV002104210 | pathogenic | Acute myeloid leukemia | criteria provided, single submitter | clinical testing | The variant was detected in bone marrow from patients, but it was not confirmed in the matched |