Submissions for variant NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)

gnomAD frequency: 0.01159  dbSNP: rs116091486

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	RCV000029380	SCV000052028	benign	Wilson disease	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences	RCV000242632	SCV000301726	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242632	SCV000526109	benign	not specified	2016-05-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029380	SCV000626864	benign	Wilson disease	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029380	SCV001267647	benign	Wilson disease	2018-08-30	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000029380	SCV001471683	benign	Wilson disease	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326687	SCV002626755	benign	Inborn genetic diseases	2017-05-11	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	RCV000029380	SCV004361950	likely benign	Wilson disease	2022-06-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000029380	SCV004844509	likely benign	Wilson disease	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001579911	SCV005215646	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000029380	SCV001453575	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579911	SCV001808992	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000242632	SCV001917118	benign	not specified		no assertion criteria provided	clinical testing