ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) (rs1801249)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755463 SCV000602585 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000029369 SCV000733356 benign Wilson disease no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078051 SCV000109889 benign not specified 2017-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000078051 SCV000517538 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.
Genetic Services Laboratory, University of Chicago RCV000078051 SCV000192345 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029369 SCV000384654 benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029369 SCV000052017 benign Wilson disease 2011-11-26 no assertion criteria provided clinical testing
PreventionGenetics RCV000078051 SCV000301718 benign not specified criteria provided, single submitter clinical testing

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