ClinVar Miner

Submissions for variant NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter)

dbSNP: rs748223519
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Birmingham Platelet Group; University of Birmingham RCV001270504 SCV001450803 pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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