Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001727234 | SCV001962466 | likely pathogenic | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001727234 | SCV002069136 | pathogenic | not provided | 2018-04-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002032693 | SCV002184532 | pathogenic | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1161*) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs369022159, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1298904). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003464125 | SCV004196721 | likely pathogenic | Fanconi anemia complementation group D2 | 2023-10-05 | criteria provided, single submitter | clinical testing |