ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) (rs2099534)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253865 SCV000305719 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000253865 SCV000592756 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000576799 SCV000604696 benign Polycystic kidney disease, adult type 2018-07-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576799 SCV000677406 benign Polycystic kidney disease, adult type 2017-06-05 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254288 SCV001430254 benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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