ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2499C>A (p.Gly833=)

gnomAD frequency: 0.00001  dbSNP: rs772461187
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081255 SCV000639170 likely benign Oligodontia-cancer predisposition syndrome 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000545621 SCV001805180 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265793 SCV002548343 likely benign not specified 2022-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431610 SCV002742652 likely benign Hereditary cancer-predisposing syndrome 2020-06-24 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000545621 SCV004220142 benign not provided 2023-04-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001081255 SCV005403195 benign Oligodontia-cancer predisposition syndrome 2024-07-11 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.
PreventionGenetics, part of Exact Sciences RCV004541692 SCV004774712 likely benign AXIN2-related disorder 2024-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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