Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558751 | SCV000626407 | likely benign | Fanconi anemia | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821488 | SCV002067655 | benign | not specified | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000558751 | SCV002529296 | likely benign | Fanconi anemia | 2020-10-09 | criteria provided, single submitter | curation | |
Gene |
RCV003156249 | SCV003845912 | uncertain significance | not provided | 2022-09-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Identified in a patient with oropharyngeal cancer who did not have features of Fanconi anemia (PMID: 28678401); This variant is associated with the following publications: (PMID: 28678401) |
Prevention |
RCV003915485 | SCV004734657 | likely benign | SLX4-related disorder | 2019-10-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |