Submissions for variant NM_000052.7(ATP7A):c.1737A>G (p.Val579=)

gnomAD frequency: 0.00015  dbSNP: rs189353691

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000757018	SCV000525849	benign	not provided	2021-01-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757018	SCV000885043	benign	not provided	2018-02-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080642	SCV001097942	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
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279185	SCV002566212	likely benign	Ehlers-Danlos syndrome	2019-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411349	SCV002715731	benign	Inborn genetic diseases	2017-08-07	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	RCV000757018	SCV004165915	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ATP7A: BP4, BP7, BS2