ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)

dbSNP: rs866727908
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Total submissions: 4
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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 RCV000655906 SCV000777855 likely pathogenic Hereditary spherocytosis type 4 2018-02-27 criteria provided, single submitter clinical testing
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV002290971 SCV002500003 pathogenic Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis 2022-03-01 criteria provided, single submitter research
Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University RCV000655906 SCV002500004 pathogenic Hereditary spherocytosis type 4 2022-03-01 criteria provided, single submitter research
Revvity Omics, Revvity RCV003140049 SCV003823625 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing

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