ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12138+2T>A

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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 RCV005251586 SCV005902332 pathogenic Polycystic kidney disease, adult type 2025-02-18 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PS1_SUP,PM2_SUP,PP4

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