Submissions for variant NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)

gnomAD frequency: 0.00227  dbSNP: rs116587608

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725741	SCV000339094	uncertain significance	not provided	2016-02-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000725741	SCV000523188	likely benign	not provided	2020-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080148	SCV000752270	benign	Wilson disease	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725741	SCV000883442	likely benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080148	SCV001268582	uncertain significance	Wilson disease	2019-06-26	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001080148	SCV001977148	likely benign	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436109	SCV002750173	likely benign	Inborn genetic diseases	2022-03-07	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002509346	SCV002819780	likely benign	not specified	2022-12-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725741	SCV004811105	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ATP7B: BP4, BP7, BS2
All of Us Research Program, National Institutes of Health	RCV001080148	SCV004845451	benign	Wilson disease	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725741	SCV001931926	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725741	SCV001966334	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001080148	SCV002086840	benign	Wilson disease	2019-10-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947909	SCV004761630	likely benign	ATP7B-related disorder	2019-12-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).