ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)

dbSNP: rs1596582702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000985016 SCV002801474 uncertain significance Polycystic kidney disease, adult type 2022-03-17 criteria provided, single submitter clinical testing
GeneDx RCV003329353 SCV004036211 uncertain significance not provided 2023-03-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35778421)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985016 SCV001132947 uncertain significance Polycystic kidney disease, adult type 2019-08-25 no assertion criteria provided clinical testing

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