ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.1069A>G (p.Ile357Val)

gnomAD frequency: 0.00632  dbSNP: rs75673983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948802 SCV001095025 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804104 SCV001159415 likely benign Hemolytic anemia due to glutathione reductase deficiency 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000948802 SCV005222902 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003933272 SCV004756453 likely benign GSR-related disorder 2024-05-06 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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