ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7201C>T (p.Leu2401=) (rs2229994)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755461 SCV000602509 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128900 SCV000172761 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing
Color RCV000128900 SCV000537383 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035082 SCV000591206 benign not specified 2012-04-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035082 SCV000226393 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303809 SCV000452043 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119165 SCV000153892 benign Familial adenomatous polyposis 1 2018-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035082 SCV000058722 benign not specified 2012-04-24 criteria provided, single submitter clinical testing Leu2401Leu in exon 15 of APC: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.3% (92/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; rs2229994).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035082 SCV000691763 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000035082 SCV000805462 benign not specified 2016-12-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128900 SCV000693489 likely benign Hereditary cancer-predisposing syndrome 2017-11-10 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.