ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.262A>G (p.Arg88Gly)

dbSNP: rs387907374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital RCV001420126 SCV001445841 likely pathogenic Hemochromatosis type 4 2020-07-01 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Pontchaillou RCV000049565 SCV000082623 not provided not provided no assertion provided not provided

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