ClinVar Miner

Variants in gene PPP3CA

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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
32 26 223 240 37 531

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 15 15 191 223 36 475
Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 1 1 30 22 0 54
Developmental and epileptic encephalopathy 91 20 7 5 0 0 28
PPP3CA-related disorder 0 1 3 8 3 15
Inborn genetic diseases 1 1 9 2 0 13
not specified 0 0 6 1 0 7
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 3 0 1 0 0 4
See cases 0 2 1 0 0 3
Developmental disorder 0 0 1 1 0 2
Autism spectrum disorder 0 0 0 1 0 1
Epileptic encephalopathy 1 0 0 0 0 1
Seizure 0 0 1 0 0 1
Seizure; Intellectual disability 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 4 157 221 21 415
GeneDx 4 6 33 0 16 59
Fulgent Genetics, Fulgent Genetics 0 0 28 22 0 50
CeGaT Center for Human Genetics Tuebingen 1 4 2 9 2 18
PreventionGenetics, part of Exact Sciences 0 0 3 8 3 14
Ambry Genetics 1 1 9 2 0 13
Pediatric Department, Peking University First Hospital 10 2 0 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 11 12
OMIM 8 0 0 0 0 8
Revvity Omics, Revvity 0 0 7 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 3 0 0 5
Baylor Genetics 3 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 3
3billion 2 0 1 0 0 3
Mendelics 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 1 0 0 0 0 1

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