ClinVar Miner

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

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Total submissions: 10
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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 RCV000029381 SCV000602613 benign Wilson disease 2019-04-09 criteria provided, single submitter clinical testing
Invitae RCV000029381 SCV000626865 benign Wilson disease 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000859342 SCV001156172 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029381 SCV001267646 likely benign Wilson disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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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