ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) (rs140869992)

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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 RCV000242682 SCV000305765 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242682 SCV000520765 likely benign not specified 2015-12-10 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000242682 SCV000540038 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000242682 SCV000592794 likely benign not specified 2016-09-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756491 SCV000884321 benign Polycystic kidney disease, adult type 2018-07-25 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254274 SCV001430239 likely benign Polycystic kidney disease, autosomal dominant 2019-01-01 criteria provided, single submitter research

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