ClinVar Miner

Variants in gene ATP13A2

Minimum submission review status: Collection method:
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Gene type:
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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
23 6 222 102 49 2 339

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 5 4 95 31 27 0 160
Kufor-Rakeb syndrome 10 2 83 17 21 2 129
not provided 3 1 51 48 28 0 119
History of neurodevelopmental disorder 0 1 21 22 15 0 59
not specified 0 0 5 7 15 0 24
Spastic paraplegia 78, autosomal recessive 5 0 1 0 0 0 6
ATP13A2-related disorders 0 0 2 0 0 0 2
Inborn genetic diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 2 88 66 28 0 189
Illumina Clinical Services Laboratory,Illumina 0 1 83 12 21 0 117
Ambry Genetics 1 1 21 22 15 0 60
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 23 6 0 0 30
Athena Diagnostics Inc 0 0 6 2 20 0 28
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 8 14 0 25
Genetic Services Laboratory, University of Chicago 0 0 6 4 10 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 12 2 5 0 20
PreventionGenetics,PreventionGenetics 0 0 0 2 13 0 15
OMIM 13 0 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 6 4 0 10
GeneDx 2 0 5 1 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Baylor Genetics 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 2
Mendelics 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1

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