ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8554del (p.Ala2852fs)

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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 RCV004545961 SCV005040940 pathogenic Polycystic kidney disease, adult type 2022-08-05 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP, PP4 (ACMG Version 4)

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