ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11783G>A (p.Trp3928Ter)

dbSNP: rs764746483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007964 SCV001167692 pathogenic not provided 2019-10-18 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22508176)

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