ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]

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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 RCV002468902 SCV002765134 pathogenic Familial hypokalemia-hypomagnesemia 2022-12-20 criteria provided, single submitter clinical testing

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