ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) (rs398123136)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078042 SCV000109880 benign not specified 2012-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078042 SCV000192326 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078042 SCV000301701 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078042 SCV000730410 likely benign not specified 2017-03-28 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.
Invitae RCV000631249 SCV000752274 likely benign Wilson disease 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000631249 SCV001272332 uncertain significance Wilson disease 2017-04-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310698 SCV001500604 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631249 SCV001463835 likely benign Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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