Submissions for variant NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)

gnomAD frequency: 0.00500  dbSNP: rs5959130

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526977	SCV000639992	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	RCV000600179	SCV000717322	benign	not specified	2017-05-05	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.
Ambry Genetics	RCV002314989	SCV000847956	benign	Inborn genetic diseases	2016-10-07	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001572670	SCV001474089	benign	not provided	2021-11-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000526977	SCV002799177	likely benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2021-09-27	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000526977	SCV001457717	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)	RCV001572670	SCV001797400	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000600179	SCV001923679	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600179	SCV001967132	benign	not specified		no assertion criteria provided	clinical testing