ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.107C>A (p.Pro36His) (rs560049593)

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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 RCV000251732 SCV000305670 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251732 SCV000530493 likely benign not specified 2016-10-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000251732 SCV000592726 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755607 SCV000604763 benign Polycystic kidney disease, adult type 2018-07-03 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254212 SCV001430281 likely benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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