ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs)

dbSNP: rs1553927823
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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 RCV000626654 SCV000747356 pathogenic Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199198 SCV001370220 pathogenic Polycystic kidney disease 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.

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