Submissions for variant NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)

gnomAD frequency: 0.02828  dbSNP: rs7334118

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078052	SCV000109890	benign	not specified	2013-02-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078052	SCV000192349	benign	not specified	2016-11-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078052	SCV000301721	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029373	SCV000384650	benign	Wilson disease	2018-03-06	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	RCV000078052	SCV000518517	benign	not specified	2016-02-08	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	RCV000029373	SCV000602612	benign	Wilson disease	2023-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029373	SCV000626857	benign	Wilson disease	2024-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000029373	SCV001139349	likely benign	Wilson disease	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000029373	SCV001977545	likely benign	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453269	SCV002616324	benign	Inborn genetic diseases	2015-08-06	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000029373	SCV004361960	benign	Wilson disease	2018-03-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000029373	SCV004845324	benign	Wilson disease	2024-02-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000029373	SCV005374036	benign	Wilson disease	2024-09-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029373	SCV000052021	benign	Wilson disease	2012-04-17	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000029373	SCV000733354	benign	Wilson disease		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000029373	SCV001455585	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078052	SCV001809209	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078052	SCV001919610	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000755468	SCV001976153	likely benign	not provided		no assertion criteria provided	clinical testing