ClinVar Miner

Submissions for variant NM_005141.4(FGB):c.1433G>A (p.Arg478Lys)

gnomAD frequency: 0.15295  dbSNP: rs4220
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
PreventionGenetics, part of Exact Sciences RCV000244462 SCV000310849 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285950 SCV000447775 benign Congenital afibrinogenemia 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV000285950 SCV001933432 benign Congenital afibrinogenemia 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001723573 SCV001950758 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20135074, 17925485, 27929198)
Invitae RCV001723573 SCV003278156 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
OMIM RCV000017808 SCV000038087 other FIBRINOGEN BALTIMORE 2 2011-10-11 no assertion criteria provided literature only

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.