ClinVar Miner

Variants studied for Galactosylceramide beta-galactosidase deficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
255 279 427 560 84 3 13 1407

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GALC 240 259 404 528 77 3 12 1324
GALC, LOC130056217 15 18 23 32 3 0 1 78
PSAP 0 0 0 0 3 0 0 3
GALC, LOC132090288 0 1 0 0 0 0 0 1
GALC, LOC132090289 0 0 0 0 1 0 0 1
GALC, SPATA7 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 212 75 242 547 44 3 0 1123
Natera, Inc. 42 70 102 14 20 0 0 248
Counsyl 3 72 45 4 0 0 0 124
Illumina Laboratory Services, Illumina 2 3 58 5 30 0 0 98
Fulgent Genetics, Fulgent Genetics 18 54 14 4 1 0 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 38 24 0 0 0 0 0 62
Genome-Nilou Lab 0 1 5 1 36 0 0 43
Myriad Genetics, Inc. 5 22 1 0 0 0 0 28
3billion 10 1 10 0 0 0 0 21
Baylor Genetics 6 5 6 0 0 0 0 17
Mendelics 6 6 1 0 2 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 4 9 2 0 0 0 0 15
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 5 1 0 0 0 0 13
GeneReviews 0 0 0 0 0 0 12 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 9 0 0 10
OMIM 10 0 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 5 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 4 0 2 1 1 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 1 0 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 4 1 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 2 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 3 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 2 1 0 0 0 0 6
MGZ Medical Genetics Center 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 2 0 0 0 0 0 4
Genetics Department, Hospital Ramon y Cajal-IRYCIS 2 1 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 2 0 1 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 1 1 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 0 3
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 1 1 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 2 0 0 0 0 0 2
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 0 2
OLLIN Analises Genomicas, OLLIN 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 0 2
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 1 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
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.