ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9201+5G>C

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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 RCV005251595 SCV005902341 uncertain significance Polycystic kidney disease, adult type 2025-02-20 criteria provided, single submitter clinical testing ACMG Criteria: PS1_MOD,PM2_SUP,PP3,PP4

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