ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1389A>G (p.Lys463=)

gnomAD frequency: 0.00019  dbSNP: rs376668879
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466862 SCV000558630 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821330 SCV002067126 likely benign not specified 2020-01-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000466862 SCV002529258 likely benign Fanconi anemia 2021-11-30 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002489114 SCV002799376 likely benign Fanconi anemia complementation group P 2022-04-19 criteria provided, single submitter clinical testing

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.