ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)

gnomAD frequency: 0.00001  dbSNP: rs1456510041
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498112 SCV000589518 uncertain significance not provided 2022-10-18 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; This variant is associated with the following publications: (PMID: 11115377, 34486251, 25333066, 33437033, 33964006)
Fulgent Genetics, Fulgent Genetics RCV000764034 SCV000894988 uncertain significance Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV000498112 SCV001422378 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000498112 SCV002771594 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000764034 SCV003808397 uncertain significance Polycystic kidney disease, adult type 2019-07-01 criteria provided, single submitter clinical testing

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