ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11246T>C (p.Leu3749Pro)

dbSNP: rs2544631424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003149423 SCV003837257 uncertain significance not provided 2022-08-31 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28154010, Wetchanien(2016)_article)

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