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

Total submissions: 8

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	RCV000145285	SCV000602613	benign	not specified	2016-12-29	criteria provided, single submitter	clinical testing
Invitae	RCV000029381	SCV000626865	benign	Wilson disease	2018-01-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000029381	SCV000733352	likely benign	Wilson disease		no assertion criteria provided	clinical testing