ClinVar Miner

Submissions for variant NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447718 SCV004175390 uncertain significance Dystonia 23 2021-01-29 criteria provided, single submitter clinical testing

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