ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1242G>A (p.Arg414=)

gnomAD frequency: 0.00016  dbSNP: rs200325634
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375821 SCV000405707 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.
Invitae RCV000375821 SCV000559506 benign Oligodontia-cancer predisposition syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712048 SCV001939287 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712048 SCV002049587 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257643 SCV002537586 benign Hereditary cancer-predisposing syndrome 2020-08-18 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268033 SCV002551274 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000375821 SCV004016305 benign Oligodontia-cancer predisposition syndrome 2023-07-07 criteria provided, single submitter clinical testing

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