ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1210del (p.Ile404fs)

dbSNP: rs1064794225
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484952 SCV000568268 pathogenic not provided 2022-08-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals with Familial Adenomatous Polyposis syndrome (Lagarde et al., 2010); This variant is associated with the following publications: (PMID: 20685668)
GenomeConnect, ClinGen RCV000709988 SCV000840356 not provided Familial adenomatous polyposis 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.