Submissions for variant NM_000053.4(ATP7B):c.-75C>A

gnomAD frequency: 0.57328  dbSNP: rs2277448

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000384429	SCV000384693	benign	Wilson disease	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000296384	SCV000483458	benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000434045	SCV000517512	benign	not specified	2015-12-18	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000384429	SCV000602592	benign	Wilson disease	2022-03-08	criteria provided, single submitter	clinical testing
Invitae	RCV000384429	SCV000752279	benign	Wilson disease	2024-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384429	SCV001775417	benign	Wilson disease	2021-07-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000384429	SCV001453801	benign	Wilson disease	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000434045	SCV001931915	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000434045	SCV001952428	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000434045	SCV001975627	benign	not specified		no assertion criteria provided	clinical testing