ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1059+8C>T

gnomAD frequency: 0.00025  dbSNP: rs367595502
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123792 SCV000167135 benign not specified 2014-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228046 SCV000288637 benign Oligodontia-cancer predisposition syndrome 2025-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000228046 SCV000405712 benign Oligodontia-cancer predisposition syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000228046 SCV001140817 likely benign Oligodontia-cancer predisposition syndrome 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811991 SCV002050221 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000123792 SCV002069375 likely benign not specified 2021-10-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258805 SCV002537564 benign Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001811991 SCV002774013 benign not provided 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000228046 SCV004016298 benign Oligodontia-cancer predisposition syndrome 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000123792 SCV004026921 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000228046 SCV005082331 likely benign Oligodontia-cancer predisposition syndrome 2024-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Breakthrough Genomics, Breakthrough Genomics RCV001811991 SCV005211275 likely benign not provided criteria provided, single submitter not provided

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