ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.337dup (p.Glu113fs)

dbSNP: rs1554043088
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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 RCV000504167 SCV000328545 pathogenic Hepatocellular carcinoma 2016-06-01 no assertion criteria provided case-control frameshift, cosegregate w/ liver disease in family

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