ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603284 SCV003500954 likely benign not provided 2022-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021604 SCV005640083 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 2024-01-08 criteria provided, single submitter clinical testing

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