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: 2
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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
Fulgent Genetics, Fulgent Genetics RCV005019093 SCV005642239 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2023-12-30 criteria provided, single submitter clinical testing

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