ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1547G>A (p.Trp516Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697973 SCV005197164 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017215 SCV005638427 pathogenic Polycystic kidney disease, adult type 2024-01-05 criteria provided, single submitter clinical testing

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