ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.604G>A (p.Glu202Lys)

gnomAD frequency: 0.00001  dbSNP: rs879205711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261575 SCV002541420 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017171 SCV005642242 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 2023-12-24 criteria provided, single submitter clinical testing

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