ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.334-4dup

gnomAD frequency: 0.02050  dbSNP: rs112134304
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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 RCV001807859 SCV002058073 benign Hemolytic anemia due to glutathione reductase deficiency 2023-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541457 SCV003279975 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931344 SCV004746642 likely benign GSR-related disorder 2019-05-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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