Submissions for variant NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)

gnomAD frequency: 0.04852  dbSNP: rs1801246

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	RCV000029362	SCV000052009	benign	Wilson disease	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000078047	SCV000109885	benign	not specified	2013-01-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078047	SCV000192335	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078047	SCV000301708	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029362	SCV000384664	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	RCV000078047	SCV000517537	benign	not specified	2016-01-29	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	RCV000029362	SCV000602598	benign	Wilson disease	2022-03-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029362	SCV001726907	benign	Wilson disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000029362	SCV001750133	benign	Wilson disease	2021-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433471	SCV002746195	benign	Inborn genetic diseases	2016-08-10	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	RCV000029362	SCV004362476	benign	Wilson disease	2019-03-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000029362	SCV004845448	benign	Wilson disease	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004707855	SCV005230368	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000029362	SCV001459712	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078047	SCV001809698	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078047	SCV001925905	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078047	SCV001930351	benign	not specified		no assertion criteria provided	clinical testing