ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)

dbSNP: rs1456510041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002086735 SCV002320741 likely pathogenic Polycystic kidney disease, adult type 2022-02-23 criteria provided, single submitter clinical testing
GeneDx RCV002509749 SCV002819118 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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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