ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759563 SCV005368232 pathogenic Polycystic kidney disease, adult type 2024-07-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2

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