Submissions for variant NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)

dbSNP: rs121913412

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetics and Molecular Pathology, SA Pathology	RCV003447477	SCV004175315	likely pathogenic	Desmoid tumor	2019-07-18	criteria provided, single submitter	clinical testing
OMIM	RCV000019142	SCV000039430	pathogenic	Hepatoblastoma	1999-09-01	no assertion criteria provided	literature only
OMIM	RCV000019143	SCV000039431	pathogenic	Desmoid tumor caused by somatic mutation	1999-09-01	no assertion criteria provided	literature only
Richard Lifton Laboratory, Yale University School of Medicine	RCV000087196	SCV000120058	unknown	not provided		flagged submission	not provided	Converted during submission to Uncertain significance.
Richard Lifton Laboratory, Yale University School of Medicine	RCV000087196	SCV000155161	probable-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely pathogenic.
Database of Curated Mutations (DoCM)	RCV000419429	SCV000506033	likely pathogenic	Prostate adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000430146	SCV000506034	likely pathogenic	Malignant melanoma of skin	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000440817	SCV000506035	likely pathogenic	Neoplasm of the large intestine	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000421675	SCV000506036	likely pathogenic	Pancreatic adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000431914	SCV000506037	likely pathogenic	Malignant neoplasm of body of uterus	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000438649	SCV000506038	likely pathogenic	Hepatocellular carcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000421001	SCV000506039	likely pathogenic	Adrenal cortex carcinoma	2016-05-31	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000432978	SCV000506040	likely pathogenic	Lung adenocarcinoma	2016-05-31	no assertion criteria provided	literature only
Donald Williams Parsons Laboratory, Baylor College of Medicine	RCV000019142	SCV000599916	other	Hepatoblastoma	2016-05-01	no assertion criteria provided	clinical testing
Martignetti Lab, Icahn School of Medicine at Mount Sinai	RCV003327294	SCV004034087	association	Atypical endometrial hyperplasia		no assertion criteria provided	research