ClinVar Miner

Variants in gene GALC

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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 other not provided total
227 210 379 539 134 3 13 1308

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Galactosylceramide beta-galactosidase deficiency 208 189 314 492 78 3 12 1155
not provided 53 38 86 62 98 0 2 312
not specified 2 0 32 10 29 0 0 71
Inborn genetic diseases 2 2 22 0 0 0 0 26
GALC-related condition 0 0 0 16 9 0 0 25
Intellectual disability 1 0 1 2 0 0 0 4
See cases 0 1 3 0 0 0 0 4
Abnormal brain morphology 0 2 0 0 0 0 0 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizure; Fetal growth restriction; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; Loss of ambulation; EMG abnormality; EMG: axonal abnormality; Dysmyelinating leukodystrophy 0 2 0 0 0 0 0 2
Spastic ataxia 1 1 0 0 0 0 0 2
Abnormality of the nervous system 1 0 0 0 0 0 0 1
Cerebral palsy 0 0 1 0 0 0 0 1
Normal pregnancy 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 184 65 176 482 41 3 0 951
GeneDx 16 9 15 35 94 0 0 169
Natera, Inc. 20 8 62 12 17 0 0 119
Counsyl 3 64 43 3 0 0 0 113
Illumina Laboratory Services, Illumina 2 3 61 4 32 0 0 102
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 13 30 4 5 0 0 80
Revvity Omics, Revvity 24 13 38 1 0 0 0 76
Eurofins Ntd Llc (ga) 12 4 13 0 20 0 0 49
Mayo Clinic Laboratories, Mayo Clinic 1 5 21 3 16 0 0 46
PreventionGenetics, part of Exact Sciences 0 0 0 21 24 0 0 45
CeGaT Center for Human Genetics Tuebingen 7 2 9 23 2 0 0 43
Genome-Nilou Lab 0 1 5 1 34 0 0 41
Ambry Genetics 2 2 22 0 0 0 0 26
Fulgent Genetics, Fulgent Genetics 4 5 13 3 1 0 0 26
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 1 7 12 0 0 24
Clinical Genetics, Academic Medical Center 0 0 1 5 17 0 0 23
Myriad Genetics, Inc. 4 16 1 0 0 0 0 21
Baylor Genetics 5 5 6 0 0 0 0 16
Mendelics 5 6 1 0 2 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 12 0 0 14
GeneReviews 0 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 0 10
Clinical Genetics and Genomics, Karolinska University Hospital 4 6 0 0 0 0 0 10
3billion 4 1 3 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 4 1 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 4 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 1 0 0 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 0 6
Bionano Laboratories 6 0 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 2 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 0 6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 5 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 2 0 0 0 5
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 0 3 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 1 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1 1 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 1 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 1 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 0 1 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1

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