ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1330-6G>T

gnomAD frequency: 0.00003  dbSNP: rs1223668739
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 RCV000611937 SCV000716694 likely benign not specified 2017-03-09 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.
Invitae RCV001434468 SCV001637274 likely benign Fanconi anemia 2023-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274612 SCV002808408 likely benign Fanconi anemia complementation group C 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274612 SCV001458896 uncertain significance Fanconi anemia complementation group C 2020-01-11 no assertion criteria provided 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.