Submissions for variant NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)

gnomAD frequency: 0.00380  dbSNP: rs61742278

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078033	SCV000109871	benign	not specified	2013-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000078033	SCV000714059	benign	not specified	2018-03-06	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.
Invitae	RCV000640913	SCV000762517	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313747	SCV000847364	benign	Inborn genetic diseases	2016-07-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277140	SCV002566234	likely benign	Ehlers-Danlos syndrome	2021-11-16	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000640913	SCV001452638	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