ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)

gnomAD frequency: 0.00007  dbSNP: rs368388100
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 RCV002064522 SCV002335127 likely benign Fanconi anemia 2021-10-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002064522 SCV002529349 likely benign Fanconi anemia 2021-03-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002495254 SCV002801675 likely benign Fanconi anemia complementation group P 2021-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000865913 SCV003840294 likely benign not provided 2019-09-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.