ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)

dbSNP: rs1555596165
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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 RCV000655904 SCV000777852 likely pathogenic Hereditary spherocytosis type 4 2018-02-27 criteria provided, single submitter clinical testing

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