ClinVar Miner

Submissions for variant NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val)

dbSNP: rs1553493234
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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 RCV001420122 SCV001445834 uncertain significance Hemochromatosis type 4 2020-07-01 no assertion criteria provided clinical testing

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