ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.188T>C (p.Val63Ala)

dbSNP: rs2105631709
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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 RCV001420124 SCV001445838 likely pathogenic Hemochromatosis type 4 2020-07-01 no assertion criteria provided clinical testing

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