ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)

dbSNP: rs41530750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507741 SCV000601199 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing In the published literature, the variant has been reported as having normal stability and function (PMID: 3384699 (1988)). Heterozygosity for this variant is associated with a normal clinical presentation (PMID: 1983218 (1990)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507741 SCV001157415 likely benign not provided 2023-05-26 criteria provided, single submitter clinical testing
OMIM RCV000017047 SCV000037319 other HEMOGLOBIN HEKINAN 2016-07-20 no assertion criteria provided literature only

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