ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)

dbSNP: rs747638599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989449 SCV001139775 pathogenic Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV002462245 SCV002757380 pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30545397, 29606500)
Fulgent Genetics, Fulgent Genetics RCV000989449 SCV002779894 pathogenic Polycystic kidney disease, adult type 2022-05-05 criteria provided, single submitter clinical testing

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