ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) (rs73202048)

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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 RCV000029381 SCV000052029 benign Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000145285 SCV000192362 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145285 SCV000227747 benign not specified 2014-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145285 SCV000301727 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000145285 SCV000518639 benign not specified 2016-11-01 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 RCV000145285 SCV000602613 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000029381 SCV000626865 benign Wilson disease 2018-01-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029381 SCV000733352 likely benign Wilson disease no assertion criteria provided clinical testing

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