Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001962073 | SCV002128055 | pathogenic | Fanconi anemia | 2023-06-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1366481). This premature translational stop signal has been observed in individual(s) with a personal and family history of breast cancer (PMID: 23840564). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Trp823*) 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). |
Fulgent Genetics, |
RCV002482537 | SCV002789107 | likely pathogenic | Fanconi anemia complementation group P | 2021-11-02 | criteria provided, single submitter | clinical testing |