ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)

gnomAD frequency: 0.00447  dbSNP: rs115901854
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961491 SCV001108538 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505446 SCV002805109 likely benign 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 2021-07-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000961491 SCV003799985 likely benign not provided 2022-05-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000961491 SCV005041709 benign not provided 2024-04-01 criteria provided, single submitter clinical testing SLC4A1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004553444 SCV004765115 benign SLC4A1-related disorder 2020-01-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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