ClinVar Miner

Variants studied for Menkes disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
119 95 662 839 137 3 1737

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7A 118 95 657 837 135 3 1728
ATP7A, PGK1 0 0 3 1 1 0 4
ATP7A, PGAM4 0 0 0 1 1 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
EIF2AK3, LOC101928371 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 12 389 819 135 0 1402
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 211 0 0 0 211
Natera, Inc. 4 0 69 35 11 0 119
Genetic Services Laboratory, University of Chicago 71 14 0 0 0 0 85
Myriad Genetics, Inc. 0 61 0 0 0 0 61
Fulgent Genetics, Fulgent Genetics 0 0 4 4 2 0 10
Baylor Genetics 2 0 7 0 0 0 9
Mendelics 1 2 1 1 3 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 4 0 0 0 7
OMIM 6 0 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 0 6
Genome-Nilou Lab 0 0 2 0 2 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
3billion 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1

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