ClinVar Miner

Submissions for variant NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003120102 SCV003797047 pathogenic Idiopathic basal ganglia calcification 1 2023-02-06 criteria provided, single submitter clinical testing

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