ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2814del (p.Gln938fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003324642 SCV005627674 likely pathogenic Polycystic kidney disease 2 2024-07-01 criteria provided, single submitter clinical testing
MVZ Medizinische Genetik Mainz RCV003324642 SCV004030219 pathogenic Polycystic kidney disease 2 2022-07-15 no assertion criteria provided clinical testing

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