Submissions for variant NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)

gnomAD frequency: 0.00076  dbSNP: rs377267217

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697571	SCV000719388	likely benign	not provided	2021-07-08	criteria provided, single submitter	clinical testing
Invitae	RCV000886974	SCV001030505	likely benign	Wilson disease	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456342	SCV002614144	likely benign	Inborn genetic diseases	2022-04-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV000886974	SCV002800377	likely benign	Wilson disease	2021-08-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962765	SCV004780172	likely benign	ATP7B-related condition	2020-10-05	criteria provided, single submitter	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).