ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9583T>C (p.Trp3195Arg)

dbSNP: rs2544716341
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590541 SCV005081039 uncertain significance not provided 2023-08-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30927425, 23985799)

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