ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)

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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 RCV004442853 SCV004934092 pathogenic Polycystic kidney disease, adult type 2024-04-23 criteria provided, single submitter clinical testing

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