Submissions for variant NM_004655.4(AXIN2):c.2406-8C>G

gnomAD frequency: 0.00009  dbSNP: rs143905290

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232419	SCV000288701	benign	Oligodontia-cancer predisposition syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000232419	SCV000405677	benign	Oligodontia-cancer predisposition syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001706260	SCV001832653	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257572	SCV002537176	benign	Hereditary cancer-predisposing syndrome	2021-07-07	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267991	SCV002551227	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487072	SCV002798703	likely benign	Oligodontia-cancer predisposition syndrome; Colorectal cancer	2022-05-13	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000232419	SCV005880985	benign	Oligodontia-cancer predisposition syndrome	2025-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706260	SCV005893089	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	AXIN2: BP4
PreventionGenetics, part of Exact Sciences	RCV004532909	SCV004749399	likely benign	AXIN2-related disorder	2019-03-25	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).