ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)

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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 RCV005020006 SCV005640882 likely pathogenic Polycystic kidney disease, adult type 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV005223174 SCV005870535 uncertain significance not provided 2024-08-22 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; Has not been previously published as pathogenic or benign to our knowledge

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