ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5142G>A (p.Ala1714=)

gnomAD frequency: 0.00835  dbSNP: rs111894696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228727 SCV000290517 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000249229 SCV000313704 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001556141 SCV001777666 likely benign not provided 2021-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000249229 SCV002774656 benign not specified 2021-07-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316299 SCV004015701 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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.