ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) (rs1801243)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029350 SCV000051996 benign Wilson disease 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078038 SCV000109876 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078038 SCV000192308 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078038 SCV000301692 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029350 SCV000384680 likely benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078038 SCV000517533 benign not specified 2016-01-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755466 SCV000602590 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029350 SCV000733364 benign Wilson disease no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.