ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.270C>T (p.Asp90=)

gnomAD frequency: 0.00076  dbSNP: rs141655687
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123807 SCV000167150 benign not specified 2014-01-14 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.
Invitae RCV000205504 SCV000261588 benign Oligodontia-cancer predisposition syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000205504 SCV000405753 benign Oligodontia-cancer predisposition syndrome 2018-01-13 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.
CeGaT Center for Human Genetics Tuebingen RCV000857998 SCV001151409 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing AXIN2: BP4, BP7
Ambry Genetics RCV001016244 SCV001177178 likely benign Hereditary cancer-predisposing syndrome 2019-01-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Sema4, Sema4 RCV001016244 SCV002537190 likely benign Hereditary cancer-predisposing syndrome 2021-02-10 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000123807 SCV002551300 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123807 SCV002773946 benign not specified 2021-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123807 SCV003929380 benign not specified 2023-04-14 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000205504 SCV004016309 benign Oligodontia-cancer predisposition syndrome 2023-07-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000857998 SCV004563912 likely benign not provided 2023-10-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000123807 SCV000691793 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000857998 SCV001740935 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000857998 SCV001918506 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000857998 SCV001971037 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000857998 SCV002035834 likely benign not provided no assertion criteria provided clinical testing

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