ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004556910 SCV005045558 pathogenic Polycystic kidney disease, adult type 2021-09-17 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP, PP4 (ACMG Version 3)

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