ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu)

dbSNP: rs752405201
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Total submissions: 1
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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 RCV001420117 SCV001445829 uncertain significance Hemochromatosis type 4 2020-07-01 criteria provided, single submitter clinical testing

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