ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6483dup (p.Arg2162fs)

dbSNP: rs1334651902
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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 RCV001199038 SCV001370033 pathogenic Polycystic kidney disease, adult type 2019-07-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001199038 SCV005627670 pathogenic Polycystic kidney disease, adult type 2024-01-16 criteria provided, single submitter clinical testing

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