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 total
85 19 61 12 5 180

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP7A 85 19 61 11 4 178
ATP7A, PGAM4 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 71 14 0 0 0 85
Invitae 10 2 56 10 1 79
Mendelics 1 2 2 1 3 9
OMIM 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 3
Baylor Genetics 1 0 0 0 0 1
Section on Translational Neuroscience,Molecular Medicine Program; NICHD; National Institutes of Health 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 1

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