ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2237+3G>A

gnomAD frequency: 0.00006  dbSNP: rs376584101
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159788 SCV000209810 benign not specified 2014-08-28 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 RCV000231654 SCV000288695 likely benign Oligodontia-cancer predisposition syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014898 SCV001175667 benign Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
Sema4, Sema4 RCV001014898 SCV002537164 benign Hereditary cancer-predisposing syndrome 2021-04-05 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000159788 SCV004026905 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477569 SCV004220086 benign not provided 2023-07-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000231654 SCV005407370 likely benign Oligodontia-cancer predisposition syndrome 2024-07-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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