ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.762G>A (p.Lys254=)

gnomAD frequency: 0.09803  dbSNP: rs1864139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508239 SCV000603855 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2024-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001683538 SCV001898663 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683538 SCV002396975 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683538 SCV005314846 benign not provided criteria provided, single submitter not provided

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