ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)

dbSNP: rs1555596072
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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 RCV000655902 SCV000777850 pathogenic Hereditary spherocytosis type 4 2018-02-27 criteria provided, single submitter clinical testing

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