ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)

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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 RCV003984922 SCV004801037 uncertain significance Polycystic kidney disease, adult type 2022-04-14 criteria provided, single submitter clinical testing PM4, PM2_SUP, PP4 (ACMG Version 3)

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