ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1962C>A (p.Gly654=)

gnomAD frequency: 0.00001  dbSNP: rs377642903
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229842 SCV000288683 benign Oligodontia-cancer predisposition syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001697583 SCV000533576 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013878 SCV001174516 likely benign Hereditary cancer-predisposing syndrome 2018-10-29 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.
Illumina Laboratory Services, Illumina RCV000229842 SCV001280679 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.
Sema4, Sema4 RCV001013878 SCV002537125 benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000430210 SCV002551246 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000229842 SCV004016314 benign Oligodontia-cancer predisposition syndrome 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697583 SCV004219187 benign not provided 2023-05-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000229842 SCV005407330 benign Oligodontia-cancer predisposition syndrome 2024-07-09 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000430210 SCV000691778 likely benign not specified no assertion criteria provided clinical testing

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