ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met)

gnomAD frequency: 0.00001  dbSNP: rs121912743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007877 SCV005640050 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 2024-01-30 criteria provided, single submitter clinical testing
OMIM RCV000019334 SCV000039624 affects BLOOD GROUP--WALDNER TYPE 1996-01-01 no assertion criteria provided literature only

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