ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) (rs7334118)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078052 SCV000109890 benign not specified 2013-02-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078052 SCV000192349 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078052 SCV000301721 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029373 SCV000384650 likely benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078052 SCV000518517 benign not specified 2016-02-08 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 RCV000755468 SCV000602612 benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Invitae RCV000029373 SCV000626857 benign Wilson disease 2017-08-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029373 SCV000052021 benign Wilson disease 2012-04-17 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029373 SCV000733354 benign Wilson disease no assertion criteria provided clinical testing

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