ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1345G>A (p.Val449Met) (rs1800367)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120971 SCV000603562 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564046 SCV000673293 benign Hereditary cancer-predisposing syndrome 2016-09-16 criteria provided, single submitter clinical testing
ITMI RCV000120971 SCV000085139 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000323053 SCV000481129 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587018 SCV000695423 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The c. variant involves the alteration of a non-conserved nucleotide and 2/4 in silico tools predict a neutral outcome. The variant is present in the control population dataset of ExAC at frequency of 0.78%, predomintantly observed in the African subpopulation at a frequency of 8%, including 37 homozygous occurrences. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.18%, strong evidence that it is a benign polymorphism. Classification of the variant of interest has not been reported by reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Invitae RCV000323053 SCV000560615 benign Fanconi anemia 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120971 SCV000302517 benign not specified 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.