ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.878C>G (p.Ser293Cys)

gnomAD frequency: 0.00008  dbSNP: rs762024253
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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 RCV001000674 SCV001157704 uncertain significance not specified 2018-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132135 SCV003817508 uncertain significance Hemolytic anemia due to glutathione reductase deficiency 2019-10-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480898 SCV004224144 uncertain significance not provided 2022-05-18 criteria provided, single submitter clinical testing BP4, PM2

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