ClinVar Miner

Submissions for variant NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) (rs775869554)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000770971 SCV000897955 pathogenic Microcytic anemia 2018-04-25 criteria provided, single submitter clinical testing This variant in the TMPRSS6 gene is present in a homozygous or (or compound heterozygousity with a large deletion) in a male patient with IRIDA syndrome

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