ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)

dbSNP: rs761060813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005014605 SCV005645117 uncertain significance Polycystic kidney disease, adult type 2024-03-08 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844993 SCV001876926 likely pathogenic Autosomal dominant polycystic kidney disease 2021-09-01 no assertion criteria provided research

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