Submissions for variant NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)

gnomAD frequency: 0.00001  dbSNP: rs146232015

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001279628	SCV001647467	likely benign	Wilson disease	2024-01-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001279628	SCV001781472	likely benign	Wilson disease	2021-07-14	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001279628	SCV004845487	likely benign	Wilson disease	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004035492	SCV005021378	likely benign	Inborn genetic diseases	2024-01-29	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.
Natera, Inc.	RCV001279628	SCV001466739	uncertain significance	Wilson disease	2020-04-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908493	SCV004721607	likely benign	ATP7B-related disorder	2019-04-04	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).