ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003491515 SCV004237573 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012992 SCV005640051 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 2024-01-09 criteria provided, single submitter clinical testing

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