ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1065G>A (p.Gln355=)

gnomAD frequency: 0.00022  dbSNP: rs200183071
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475575 SCV000558657 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489117 SCV002796858 likely benign Fanconi anemia complementation group P 2021-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424030 SCV004144924 likely benign not provided 2023-01-01 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.