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

Total submissions: 10

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