ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287309 SCV002577600 likely pathogenic Polycystic kidney disease, adult type 2022-05-04 criteria provided, single submitter clinical testing PVS1, PM2

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