ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) (rs146887330)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241576 SCV000305728 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000576409 SCV000604768 benign Polycystic kidney disease, adult type 2020-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576409 SCV000677410 benign Polycystic kidney disease, adult type 2017-05-31 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254198 SCV001430219 likely benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001534083 SCV001750979 benign not provided 2019-12-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18640754)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000241576 SCV000592765 benign not specified no assertion criteria provided clinical testing

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