ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4237A>G (p.Met1413Val)

gnomAD frequency: 0.00018  dbSNP: rs141519952
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003764834 SCV000166034 benign Familial adenomatous polyposis 1 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131786 SCV000186835 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000589855 SCV000209524 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 20233475, 25637381, 21859464, 18199528, 26416840, 27153395, 26332594, 23085758)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000120015 SCV000538299 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified within the last year. Didn't undergo full assessment. Seen in 7 papers, including in unaffected individuals and homozygous in one patient. MaxMAF .132% (but only 758 chrs). AA not conserved - Val seen in hamster.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589855 SCV000694048 benign not provided 2016-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000122777 SCV000838113 likely benign Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000131786 SCV000902669 benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589855 SCV001133335 likely benign not provided 2019-07-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000131786 SCV002531971 likely benign Hereditary cancer-predisposing syndrome 2021-07-27 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000120015 SCV002760356 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000131786 SCV004228135 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-26 criteria provided, single submitter clinical testing
ITMI RCV000120015 SCV000084145 not provided not specified 2013-09-19 no assertion provided reference population
CSER _CC_NCGL, University of Washington RCV000148358 SCV000190048 likely benign Colorectal adenoma 2014-06-01 no assertion criteria provided research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000589855 SCV001953409 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000589855 SCV001970607 likely benign not provided no assertion criteria provided clinical testing

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