ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.261T>C (p.Gly87=)

gnomAD frequency: 0.07666  dbSNP: rs2280855
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001593 SCV001159006 benign Hemolytic anemia due to glutathione reductase deficiency 2024-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001713060 SCV001939193 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001713060 SCV002433698 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713060 SCV005271810 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003973019 SCV004788435 benign GSR-related disorder 2019-03-28 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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