Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001531943 | SCV001747292 | likely pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003401412 | SCV004120121 | uncertain significance | SF3B1-related disorder | 2022-12-08 | criteria provided, single submitter | clinical testing | The SF3B1 c.2098A>G variant is predicted to result in the amino acid substitution p.Lys700Glu. To our knowledge, this variant has not been reported in the literature in association with human disease. This variant is reported in 0.030% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-198266834-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Database of Curated Mutations |
RCV000420863 | SCV000504635 | likely pathogenic | Acute myeloid leukemia | 2014-10-02 | no assertion criteria provided | literature only | |
Druker Lab, |
RCV002291501 | SCV002583832 | pathogenic | Chronic myelogenous leukemia, BCR-ABL1 positive | 2022-10-10 | no assertion criteria provided | clinical testing |