ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter)

dbSNP: rs1555367359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris RCV000655914 SCV000777863 pathogenic Hereditary spherocytosis type 2 2018-02-27 criteria provided, single submitter clinical testing

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