ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs)

dbSNP: rs1057518797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414930 SCV000492601 pathogenic Polycystic kidney disease; Chronic kidney disease; Hypertensive disorder 2015-11-25 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626655 SCV000747357 pathogenic Polycystic kidney disease 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199322 SCV001370404 pathogenic Polycystic kidney disease 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.

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