ClinVar Miner

Variants in gene SPR

See also:
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
24 11 87 82 7 197

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Dystonic disorder 13 1 51 81 2 148
Dopa-responsive dystonia due to sepiapterin reductase deficiency 13 8 31 0 2 53
not provided 4 3 17 3 6 33
Inborn genetic diseases 1 0 6 1 0 8
SPR-related disorder 1 0 2 2 0 5
Dopa-responsive dystonia 0 0 1 0 0 1
Intellectual disability 1 0 0 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 1 51 81 2 147
Illumina Laboratory Services, Illumina 0 0 22 0 2 24
GeneDx 4 1 10 2 5 22
CeGaT Center for Human Genetics Tuebingen 2 2 6 1 1 12
Ambry Genetics 1 0 6 1 0 8
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 3 0 2 0 0 5
PreventionGenetics, part of Exact Sciences 1 0 2 2 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 3 4
Fulgent Genetics, Fulgent Genetics 2 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
Eurofins Ntd Llc (ga) 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 2
3billion 2 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 1
Raymond Lab, University of Cambridge 1 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Fatma Al Jasmi Lab, United Arab Emirates University 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1

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