ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)

dbSNP: rs1555446411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518508 SCV000614465 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490886 SCV002795357 likely pathogenic Polycystic kidney disease, adult type 2024-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000518508 SCV004021832 likely pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30093605, 18640754)

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