ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.465A>G (p.Glu155=)

gnomAD frequency: 0.00020  dbSNP: rs138512851
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 RCV000554953 SCV000626441 likely benign Fanconi anemia 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490952 SCV002800262 likely benign Fanconi anemia complementation group P 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409765 SCV004144929 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7
Leiden Open Variation Database RCV001194830 SCV001364637 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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.