Submissions for variant NM_000052.7(ATP7A):c.610+8G>A

gnomAD frequency: 0.00506  dbSNP: rs144616937

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078037	SCV000109875	benign	not specified	2013-05-02	criteria provided, single submitter	clinical testing
Invitae	RCV000559386	SCV000640000	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000078037	SCV000717235	benign	not specified	2017-09-05	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.
PreventionGenetics, part of Exact Sciences	RCV003944992	SCV004762673	benign	ATP7A-related condition	2019-11-06	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000559386	SCV001452636	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573877	SCV001800368	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078037	SCV001918859	benign	not specified		no assertion criteria provided	clinical testing