Submissions for variant NM_000053.4(ATP7B):c.3903+6C>T

gnomAD frequency: 0.53754  dbSNP: rs2282057

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029376	SCV000052024	benign	Wilson disease	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000078054	SCV000109892	benign	not specified	2016-04-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078054	SCV000192355	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078054	SCV000301723	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029376	SCV000384646	benign	Wilson disease	2018-01-13	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	RCV000078054	SCV000517539	benign	not specified	2015-12-02	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	RCV000029376	SCV000602584	likely benign	Wilson disease	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029376	SCV001729949	benign	Wilson disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000029376	SCV001750113	benign	Wilson disease	2021-07-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000029376	SCV004361954	benign	Wilson disease	2018-03-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000999513	SCV005215651	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000029376	SCV000733353	benign	Wilson disease		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000029376	SCV001455576	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000999513	SCV001552710	uncertain significance	not provided		no assertion criteria provided	clinical testing	multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 61.035% in ExAC) based on the frequency threshold of 2.434% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.8 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078054	SCV001808846	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078054	SCV001920096	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078054	SCV001952998	benign	not specified		no assertion criteria provided	clinical testing