Submissions for variant NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)

gnomAD frequency: 0.00001  dbSNP: rs370736173

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235848	SCV000292881	benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000784893	SCV000923430	uncertain significance	Menkes kinky-hair syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Invitae	RCV001084874	SCV001041569	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2024-01-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277595	SCV002565183	likely benign	Ehlers-Danlos syndrome	2022-03-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321900	SCV002631978	likely benign	Inborn genetic diseases	2021-03-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Natera, Inc.	RCV000784893	SCV001458110	uncertain significance	Menkes kinky-hair syndrome	2020-01-24	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000235848	SCV001798463	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000235848	SCV001976065	likely benign	not provided		no assertion criteria provided	clinical testing