ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)

dbSNP: rs121913409
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019153 SCV000039441 pathogenic Hepatocellular carcinoma 1999-07-08 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429593 SCV000503906 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436327 SCV000503907 pathogenic Melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418669 SCV000503908 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430307 SCV000503909 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440570 SCV000503910 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422910 SCV000503911 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429678 SCV000503912 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441643 SCV000503913 likely pathogenic Adrenal cortex carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423935 SCV000503914 likely pathogenic Disease 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000019153 SCV000503915 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505673 SCV000599914 other Nephroblastoma 2016-05-01 no assertion criteria provided clinical testing
Institute of Medical Sciences, Banaras Hindu University RCV001374445 SCV001571409 pathogenic Gallbladder cancer 2020-10-30 no assertion criteria provided research

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