ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)

gnomAD frequency: 0.00218  dbSNP: rs151105762
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
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, University of Chicago RCV001821488 SCV002067655 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000558751 SCV002529296 likely benign Fanconi anemia 2020-10-09 criteria provided, single submitter curation
GeneDx 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)
PreventionGenetics, part of Exact Sciences 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.