ClinVar Miner

Submissions for variant NM_000128.3(F11):c.908del (p.Gly303fs) (rs786204722)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169545 SCV000221036 likely pathogenic Hereditary factor XI deficiency disease 2015-01-16 criteria provided, single submitter literature only
Invitae RCV001380983 SCV001579226 pathogenic not provided 2020-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly303Glufs*46) in the F11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs768178022, ExAC 0.006%). This variant has been observed in individual(s) with FXI deficiency (PMID: 11895778, 29178608, 24112640). This variant is also known as 285delG in the literature. ClinVar contains an entry for this variant (Variation ID: 189129). Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000169545 SCV001161819 likely pathogenic Hereditary factor XI deficiency disease no assertion criteria provided research

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.