ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) (rs1801244)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078039 SCV000109877 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078039 SCV000192311 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078039 SCV000301693 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029351 SCV000384676 likely benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078039 SCV000517534 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 RCV000755465 SCV000602589 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029351 SCV000051997 benign Wilson disease 2011-11-26 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029351 SCV000733362 benign Wilson disease no assertion criteria provided clinical testing

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