ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu)

gnomAD frequency: 0.00333  dbSNP: rs59706816
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 RCV000471311 SCV000558668 benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821337 SCV002068038 benign not specified 2021-05-26 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316603 SCV004015506 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424031 SCV004144914 benign not provided 2023-06-01 criteria provided, single submitter clinical testing SLX4: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003960071 SCV004769626 benign SLX4-related disorder 2020-02-19 criteria provided, single submitter clinical testing This variant is classified as 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.