ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2721T>G (p.Ala907=)

gnomAD frequency: 0.00001  dbSNP: rs150172333
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 RCV000863406 SCV001004059 likely benign Fanconi anemia 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478957 SCV002802152 likely benign Spermatogenic failure 28; Premature ovarian failure 15 2021-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456440 SCV004184397 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FANCM: 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.