ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7182T>C (p.Ser2394=)

gnomAD frequency: 0.00002  dbSNP: rs777420141
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588316 SCV000694110 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775347 SCV000909626 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV003767323 SCV001021890 likely benign Familial adenomatous polyposis 1 2023-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775347 SCV001188446 likely benign Hereditary cancer-predisposing syndrome 2019-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.