ClinVar Miner

Submissions for variant NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)

gnomAD frequency: 0.00013  dbSNP: rs28929480
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137536 SCV003821400 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989296 SCV004807684 uncertain significance Cryohydrocytosis 2024-03-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003137536 SCV005412744 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007882 SCV005642260 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 2024-02-10 criteria provided, single submitter clinical testing
OMIM RCV000019353 SCV000039643 pathogenic Hereditary spherocytosis type 4 2001-06-01 no assertion criteria provided literature only

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