ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)

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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 RCV003992038 SCV004811926 uncertain significance Polycystic kidney disease, adult type 2022-07-19 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP4, BP4 (ACMG Version 4)

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