ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598395 SCV005091181 uncertain significance Polycystic kidney disease, adult type 2024-04-25 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PP4
Department of Pathology and Laboratory Medicine, Sinai Health System RCV004598395 SCV005912145 uncertain significance Polycystic kidney disease, adult type 2019-11-04 criteria provided, single submitter clinical testing

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