ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) (rs121913407)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019154 SCV000039442 pathogenic Hepatocellular carcinoma 1999-07-08 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000087197 SCV000120059 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Richard Lifton Laboratory, Yale University School of Medicine RCV000087197 SCV000155162 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Database of Curated Mutations (DoCM) RCV000435313 SCV000503887 pathogenic Cutaneous melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417674 SCV000503888 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427866 SCV000503889 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439866 SCV000503890 likely pathogenic Disease 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422223 SCV000503891 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428983 SCV000503892 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439398 SCV000503893 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423471 SCV000503894 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000019154 SCV000503895 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441996 SCV000503896 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only

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