ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003984905 SCV004801020 pathogenic Polycystic kidney disease 4 2024-02-28 criteria provided, single submitter clinical testing PVS1,PM2_SUP,PP4
Baylor Genetics RCV003984905 SCV005056280 likely pathogenic Polycystic kidney disease 4 2024-03-22 criteria provided, single submitter clinical testing

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