Submissions for variant NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)

gnomAD frequency: 0.00003  dbSNP: rs570594838

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245085	SCV000301704	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245085	SCV000702264	likely benign	not specified	2016-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001699268	SCV000719716	likely benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16133174, 21034864, 10502777, 11690702, 30120852)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907046	SCV001051725	likely benign	Wilson disease	2025-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000907046	SCV001272328	uncertain significance	Wilson disease	2019-02-01	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245085	SCV001623360	likely benign	not specified	2021-04-21	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000907046	SCV003834481	uncertain significance	Wilson disease	2020-02-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000907046	SCV004845516	likely benign	Wilson disease	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004965354	SCV005520006	likely benign	Inborn genetic diseases	2024-08-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000907046	SCV005876939	likely benign	Wilson disease	2024-07-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000245085	SCV001917233	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699268	SCV001926739	likely benign	not provided		no assertion criteria provided	clinical testing