ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.4973+5G>A (rs1555367789)

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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 RCV000655910 SCV000777859 likely pathogenic Spherocytosis type 2 2018-02-27 criteria provided, single submitter clinical testing

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