ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) (rs732774)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029357 SCV000052004 benign Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078044 SCV000109882 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078044 SCV000301706 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029357 SCV000384666 benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078044 SCV000517536 benign not specified 2016-01-05 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 RCV000029357 SCV000602587 benign Wilson disease 2018-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078044 SCV000192332 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029357 SCV000733358 benign Wilson disease no assertion criteria provided clinical testing

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