Submissions for variant NM_004655.4(AXIN2):c.1476C>T (p.Ala492=)

gnomAD frequency: 0.00001  dbSNP: rs931608809

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000607300	SCV000722965	likely benign	not specified	2017-09-15	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	RCV000906854	SCV001051518	likely benign	Oligodontia-cancer predisposition syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257855	SCV002537068	likely benign	Hereditary cancer-predisposing syndrome	2020-12-03	criteria provided, single submitter	curation
Ambry Genetics	RCV002257855	SCV002700695	likely benign	Hereditary cancer-predisposing syndrome	2020-09-17	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.	RCV000906854	SCV005407371	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.