Submissions for variant NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)

gnomAD frequency: 0.00082  dbSNP: rs146651049

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725408	SCV000336753	uncertain significance	not provided	2015-11-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080192	SCV000639991	likely benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000725408	SCV000719203	benign	not provided	2020-07-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314012	SCV000849034	benign	Inborn genetic diseases	2022-11-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000725408	SCV004165924	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ATP7A: BS1
Natera, Inc.	RCV001080192	SCV001457715	likely 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