Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383057 | SCV001582076 | pathogenic | Fanconi anemia | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1299Glyfs*35) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). This variant is present in population databases (rs763914156, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070771). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001780319 | SCV002807257 | likely pathogenic | Fanconi anemia complementation group P | 2021-11-16 | criteria provided, single submitter | clinical testing |