ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.251-20T>C

gnomAD frequency: 0.00009  dbSNP: rs370867462
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
GeneDx RCV000160505 SCV000211070 benign not specified 2014-10-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002053925 SCV002390832 likely benign Fanconi anemia 2024-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492636 SCV002799247 likely benign Fanconi anemia complementation group C 2021-12-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002492636 SCV004017614 benign Fanconi anemia complementation group C 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.