ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)

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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 RCV004720733 SCV005331557 uncertain significance Polycystic kidney disease, adult type 2024-08-30 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM2_SUP,PM5_SUP,PP4

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