ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4410G>A (p.Pro1470=)

gnomAD frequency: 0.00001  dbSNP: rs1555449966
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001038273 SCV001201737 likely benign Fanconi anemia 2022-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021349 SCV005639801 uncertain significance Fanconi anemia complementation group P 2024-05-16 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194855 SCV001364688 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.