ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter)

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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 RCV004555260 SCV005044233 pathogenic Polycystic kidney disease, adult type 2022-05-18 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PS4_SUP, PM2_SUP, PP4 (ACMG Version 3)

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