ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) (rs1801244)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078039 SCV000109877 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078039 SCV000192311 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078039 SCV000301693 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029351 SCV000384676 benign Wilson disease 2018-01-12 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.
GeneDx RCV000078039 SCV000517534 benign not specified 2016-01-08 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 RCV000029351 SCV000602589 benign Wilson disease 2020-08-28 criteria provided, single submitter clinical testing
Invitae RCV000029351 SCV001720722 benign Wilson disease 2020-11-26 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000029351 SCV001750140 benign Wilson disease 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029351 SCV000051997 benign Wilson disease 2011-11-26 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000029351 SCV000733362 benign Wilson disease no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357860 SCV001553450 uncertain significance not provided no assertion criteria provided clinical testing multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 53.754% in ExAC) based on the frequency threshold of 2.434% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000078039 SCV001807654 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078039 SCV001919601 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078039 SCV001959153 benign not specified no assertion criteria provided clinical testing

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