ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)

dbSNP: rs1555459345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626722 SCV000747425 likely pathogenic Polycystic kidney disease; Hemangioma; Enlarged kidney 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV003162769 SCV003915321 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22508176, 23431072, 31740684, 22367170)

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