Submissions for variant NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)

gnomAD frequency: 0.00499  dbSNP: rs187200982

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084498	SCV000752264	benign	Wilson disease	2024-01-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757024	SCV000885052	benign	not provided	2017-05-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000757024	SCV000980373	benign	not provided	2018-06-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV000757024	SCV001156168	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ATP7B: BS2
Illumina Laboratory Services, Illumina	RCV001084498	SCV001272222	benign	Wilson disease	2017-04-28	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001084498	SCV001977128	benign	Wilson disease	2021-08-10	criteria provided, single submitter	clinical testing