ClinVar Miner

Submissions for variant NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) (rs72541816)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034401 SCV000885018 benign not provided 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130974 SCV000185889 benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034401 SCV000043143 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034401 SCV000511737 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000130974 SCV000681891 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000077995 SCV000591216 benign not specified 2013-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077995 SCV000109833 benign not specified 2013-09-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000077995 SCV000593260 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
ITMI RCV000077995 SCV000084165 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000367966 SCV000452050 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457592 SCV000562659 benign Familial adenomatous polyposis 1 2018-01-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000077995 SCV000691769 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000077995 SCV000301607 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130974 SCV000805208 likely benign Hereditary cancer-predisposing syndrome 2018-04-25 no assertion criteria provided 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.