ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.330A>C (p.Leu110=)

gnomAD frequency: 0.00008  dbSNP: rs201633684
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000553960 SCV000626278 benign Fanconi anemia 2024-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490945 SCV002801813 likely benign Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-03-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316677 SCV004017601 benign Fanconi anemia complementation group B 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808748 SCV005436274 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing FANCB: BP4, BP7, BS2

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.