ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.134dup (p.Ser46fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764506 SCV005373993 likely pathogenic Hypermanganesemia with dystonia, polycythemia, and cirrhosis 2024-09-22 criteria provided, single submitter clinical testing

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