ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)

dbSNP: rs2151792059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844975 SCV001876908 pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333768 SCV004041649 pathogenic Polycystic kidney disease, adult type 2023-10-09 no assertion criteria provided clinical testing

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