Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670866 | SCV000795778 | likely pathogenic | Bloom syndrome | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000670866 | SCV001404526 | pathogenic | Bloom syndrome | 2019-09-14 | criteria provided, single submitter | clinical testing | Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 555115). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1231Serfs*11) in the BLM gene. It is expected to result in an absent or disrupted protein product. |