ClinVar Miner

Submissions for variant NM_000038.6(APC):c.276C>T (p.Ser92=)

gnomAD frequency: 0.00004  dbSNP: rs369238363
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002517289 SCV000252914 likely benign Familial adenomatous polyposis 1 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569741 SCV000675874 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 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.
Color Diagnostics, LLC DBA Color Health RCV000569741 SCV000686910 likely benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532995 SCV001748831 likely benign not specified 2021-06-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996937 SCV004841716 likely benign Classic or attenuated familial adenomatous polyposis 2024-04-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002517289 SCV004933031 benign Familial adenomatous polyposis 1 2024-02-22 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.
PreventionGenetics, part of Exact Sciences RCV004739580 SCV005357617 likely benign APC-related disorder 2024-07-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.