ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)

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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 RCV004720716 SCV005331528 pathogenic Polycystic kidney disease, adult type 2024-08-21 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4

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