ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)

dbSNP: rs1554040964
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan RCV000499860 SCV000328548 pathogenic Hepatocellular carcinoma 2016-06-01 no assertion criteria provided case-control likely loss-of-function, unstable protein in vitro, cosegregate w/ liver and lung disease in family

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