ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12794del (p.Gly4265fs)

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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 RCV005251578 SCV005902324 likely pathogenic Polycystic kidney disease, adult type 2025-02-26 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM2_SUP,PP4

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