ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)

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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 Medical Genetics Unit, Bambino Gesù Children's Hospital RCV003480013 SCV004222608 likely pathogenic Hypermanganesemia with dystonia, polycythemia, and cirrhosis no assertion criteria provided clinical testing

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