ClinVar Miner

Variants in gene ATP7A

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Minimum submission review status: Collection method:
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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
99 21 112 59 39 301

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Menkes kinky-hair syndrome 77 15 3 0 0 95
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 4 1 33 23 25 86
not provided 11 3 53 3 2 72
not specified 0 0 21 32 19 69
History of neurodevelopmental disorder 1 0 7 8 14 30
Cutis laxa, X-linked 6 0 0 0 0 6
Distal spinal muscular atrophy, X-linked 3 2 1 0 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 2
Inborn genetic diseases 0 0 1 0 0 1
Menkes disease, copper-replacement responsive 1 0 0 0 0 1
Menkes disease, mild 1 0 0 0 0 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked 0 1 0 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 71 14 8 3 9 105
Invitae 4 2 33 23 25 87
GeneDx 2 2 45 27 10 86
Ambry Genetics 1 0 8 8 14 31
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 1 11 0 9 27
OMIM 16 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 2 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 1 2 4 9
PreventionGenetics 0 0 0 3 3 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 3
Inherited Neuropathy Consortium 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
ISCA site 4 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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