Submissions for variant NM_004655.4(AXIN2):c.1569C>T (p.Ala523=)

gnomAD frequency: 0.00001  dbSNP: rs745968863

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000827049	SCV000968661	likely benign	not provided	2018-03-28	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	RCV001085717	SCV001114170	likely benign	Oligodontia-cancer predisposition syndrome	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399836	SCV002708785	likely benign	Hereditary cancer-predisposing syndrome	2021-06-14	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.
Myriad Genetics, Inc.	RCV001085717	SCV005403232	benign	Oligodontia-cancer predisposition syndrome	2024-07-03	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.