Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001380476 | SCV001578558 | pathogenic | Bloom syndrome | 2020-06-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys498*) in the BLM gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV001380476 | SCV002795309 | likely pathogenic | Bloom syndrome | 2021-12-10 | criteria provided, single submitter | clinical testing |