ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)

gnomAD frequency: 0.00025  dbSNP: rs376349741
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862072 SCV001002515 likely benign Fanconi anemia 2023-10-13 criteria provided, single submitter clinical testing
Mendelics RCV000987098 SCV001136296 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171829 SCV001334699 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816939 SCV002071288 likely benign not specified 2020-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507466 SCV002795279 likely benign Fanconi anemia complementation group D2 2022-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965650 SCV004777952 likely benign FANCD2-related condition 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.