ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)

dbSNP: rs1616940
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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 RCV000712595 SCV000843111 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000712595 SCV002504466 likely pathogenic not provided 2024-04-29 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: 29801666)
Fulgent Genetics, Fulgent Genetics RCV005021111 SCV005643147 likely pathogenic Polycystic kidney disease, adult type 2024-04-26 criteria provided, single submitter clinical testing

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