ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.258G>A (p.Leu86=)

dbSNP: rs1064795980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486014 SCV000572313 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000824559 SCV000965461 likely benign Oligodontia-cancer predisposition syndrome 2024-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168966 SCV003854005 likely benign Hereditary cancer-predisposing syndrome 2023-02-10 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.

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