ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu)

dbSNP: rs2544650057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469737 SCV002765578 uncertain significance not provided 2022-12-02 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: 26453610)
Fulgent Genetics, Fulgent Genetics RCV005019213 SCV005640973 likely pathogenic Polycystic kidney disease, adult type 2024-03-28 criteria provided, single submitter clinical testing

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