ClinVar Miner

Submissions for variant NM_000460.4(THPO):c.-47del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV001093614 SCV001244898 pathogenic Thrombocythemia 1 2020-04-24 criteria provided, single submitter clinical testing This variant is in the 5'-UTR of the THPO gene and it was reported to segregate in affected members of two unrelated families with autosomal dominant essential thrombocythemia. In vitro experiments showed that it increased TPO production (Kondo T et al, Blood 92: 1091-1096, 1998).

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