ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter)

dbSNP: rs1567174997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712668 SCV000843187 pathogenic not provided 2018-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477649 SCV002782693 pathogenic Polycystic kidney disease, adult type 2022-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000712668 SCV003926058 pathogenic not provided 2022-11-22 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: 22508176)

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