ClinVar Miner

Variants in gene GALC

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
110 130 197 142 85 3 2 566

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Galactosylceramide beta-galactosidase deficiency 91 115 177 124 43 3 0 474
not provided 36 20 32 19 48 0 1 149
not specified 1 0 8 8 29 0 0 43
Intellectual disability 1 0 1 3 0 0 0 5
Inborn genetic diseases 2 0 1 0 0 0 0 3
Abnormality of brain morphology 0 2 0 0 0 0 0 2
Leukodystrophy; Status epilepticus; Global developmental delay; Seizures; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Intrauterine growth retardation; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; EMG abnormality; EMG: axonal abnormality; Loss of ability to walk; Dysmyelinating leukodystrophy 0 2 0 0 0 0 0 2
Normal pregnancy 0 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 67 24 34 119 16 3 0 263
Counsyl 3 74 44 4 0 0 0 125
Illumina Clinical Services Laboratory,Illumina 2 3 62 5 32 0 0 104
Natera, Inc. 8 2 43 3 9 0 0 65
GeneDx 14 6 5 4 32 0 0 61
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 13 5 13 0 20 0 0 51
Integrated Genetics/Laboratory Corporation of America 18 1 7 1 6 0 0 33
PreventionGenetics, PreventionGenetics 0 0 0 5 19 0 0 24
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 3 16 0 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 7 2 0 0 0 15
Baylor Genetics 6 3 5 0 0 0 0 14
OMIM 10 0 0 0 0 0 0 10
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 4 6 0 0 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 9 0 0 10
Mendelics 1 3 0 1 2 0 0 7
Lineagen, Inc 6 0 1 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 2 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 2 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
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 3 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 3 0 0 0 4
Ambry Genetics 2 0 1 0 0 0 0 3
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 1 0 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 1 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 1 0 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 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
Laboratory for Molecular Medicine,Partners HealthCare 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 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
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 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, Oman 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
Nilou-Genome Lab 0 0 0 0 1 0 0 1

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