ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) (rs1801248)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029365 SCV000052012 benign Wilson disease 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000145268 SCV000192338 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145268 SCV000301712 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029365 SCV000384662 likely benign Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000145268 SCV000517725 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 RCV000755216 SCV000602586 benign not provided 2018-02-22 criteria provided, single submitter clinical testing

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