ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.948C>A (p.Ala316=)

gnomAD frequency: 0.01510  dbSNP: rs8191416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287112 SCV001473760 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2023-11-09 criteria provided, single submitter clinical testing
Invitae RCV002069525 SCV002427620 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983871 SCV004796716 benign GPI-related condition 2019-05-08 criteria provided, single submitter 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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