ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)

gnomAD frequency: 0.00001  dbSNP: rs768426818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306392 SCV001495764 likely benign not provided 2022-11-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001306392 SCV002541415 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493607 SCV002799792 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 2022-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001306392 SCV003821399 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing

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