Submissions for variant NM_004655.4(AXIN2):c.564G>A (p.Gln188=)

dbSNP: rs753137017

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531024	SCV000639186	likely benign	Oligodontia-cancer predisposition syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024367	SCV001186368	likely benign	Hereditary cancer-predisposing syndrome	2019-10-10	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.
GeneDx	RCV001809479	SCV002056066	uncertain significance	not provided	2024-11-24	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing
Myriad Genetics, Inc.	RCV000531024	SCV005082355	benign	Oligodontia-cancer predisposition syndrome	2024-06-27	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	RCV004737812	SCV005360910	likely benign	AXIN2-related disorder	2024-08-29	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).