Submissions for variant NM_000053.4(ATP7B):c.2866-13G>C

gnomAD frequency: 0.10642  dbSNP: rs7325983

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029358	SCV000052005	benign	Wilson disease	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000078045	SCV000109883	benign	not specified	2014-07-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078045	SCV000192334	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078045	SCV000301707	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029358	SCV000384665	benign	Wilson disease	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000078045	SCV000518516	benign	not specified	2015-12-04	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	RCV000029358	SCV000602594	benign	Wilson disease	2022-02-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029358	SCV001729950	benign	Wilson disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000029358	SCV001750134	benign	Wilson disease	2021-07-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000029358	SCV004362478	benign	Wilson disease	2019-03-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706448	SCV005230369	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078045	SCV001808144	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078045	SCV001923159	benign	not specified		no assertion criteria provided	clinical testing