ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.489A>G (p.Gly163=)

gnomAD frequency: 0.14862  dbSNP: rs1801015
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244239 SCV000302863 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001283060 SCV000603856 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001618367 SCV001846887 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618367 SCV002401318 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001283060 SCV002804199 benign Hemolytic anemia due to glucophosphate isomerase deficiency 2022-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618367 SCV005314841 benign not provided criteria provided, single submitter not provided

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