ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7932T>A (p.Ile2644=)

gnomAD frequency: 0.00001  dbSNP: rs781734502
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583664 SCV000687154 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562612 SCV001698168 likely benign Familial adenomatous polyposis 1 2024-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583664 SCV004005213 likely benign Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV004001310 SCV004835743 likely benign Classic or attenuated familial adenomatous polyposis 2023-05-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562612 SCV005082753 benign Familial adenomatous polyposis 1 2024-04-11 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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.