ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) (rs1057518897)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415041 SCV000492845 pathogenic Multiple renal cysts; Hypertensive disorder 2015-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518237 SCV000614545 pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763371 SCV000894067 pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000518237 SCV000927729 pathogenic not provided 2018-06-06 criteria provided, single submitter clinical testing
Mendelics RCV000763371 SCV001139778 pathogenic Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000518237 SCV001335033 pathogenic not provided 2020-05-01 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV000518237 SCV001422389 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254205 SCV001430274 likely pathogenic Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research
Gharavi Laboratory,Columbia University RCV000518237 SCV000809149 pathogenic not provided 2018-09-16 no assertion criteria provided research

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