ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9202-3C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004719452 SCV005325336 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 25340609)

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