ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met)

dbSNP: rs1446061270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708597 SCV000837724 uncertain significance Polycystic kidney disease, adult type 2017-10-16 criteria provided, single submitter clinical testing
GeneDx RCV003148839 SCV003836938 uncertain significance not provided 2023-03-20 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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