ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.695-3C>A

gnomAD frequency: 0.00001  dbSNP: rs772264078
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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 RCV000655905 SCV000777853 likely pathogenic Hereditary spherocytosis type 4 2018-02-27 criteria provided, single submitter clinical testing

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