ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.165C>T (p.Cys55=)

gnomAD frequency: 0.00006  dbSNP: rs202030834
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
Genetic Services Laboratory, University of Chicago RCV000500595 SCV000597152 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Invitae RCV000863589 SCV001004279 likely benign Fanconi anemia 2024-01-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316650 SCV004015511 likely benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884584 SCV004699492 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7

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.