Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537846 | SCV000626457 | pathogenic | Fanconi anemia | 2022-08-22 | 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: 456341). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs752720263, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Ser287Thrfs*20) 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, |
RCV001536059 | SCV001752755 | likely pathogenic | Fanconi anemia complementation group P | 2021-06-30 | criteria provided, single submitter | clinical testing |