ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1529G>A (p.Arg510Gln)

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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 RCV005022125 SCV005638430 uncertain significance Polycystic kidney disease, adult type 2024-06-01 criteria provided, single submitter clinical testing
GeneDx RCV005052117 SCV005685947 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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