ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Faculty of Medicine, Istanbul University RCV001255874 SCV001296379 likely pathogenic Fanconi anemia, complementation group A 2020-03-17 no assertion criteria provided clinical testing Segregates in family
Leiden Open Variation Database RCV001255874 SCV001425620 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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.