ClinVar Miner

Variants studied for Krabbe disease

Included ClinVar conditions (4):
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
226 208 390 558 107 3 13 1352

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GALC 208 189 314 492 78 3 12 1155
PSAP 4 1 57 13 14 0 0 88
GALC, LOC130056217 14 16 16 32 3 0 1 72
CDH23, PSAP 0 0 3 21 11 0 0 35
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: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 197 73 187 512 43 3 0 1015
Illumina Laboratory Services, Illumina 2 3 119 37 50 0 0 211
Natera, Inc. 21 8 63 14 20 0 0 126
Counsyl 3 72 45 4 0 0 0 124
Genome-Nilou Lab 0 1 5 3 45 0 0 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 13 0 0 0 0 0 44
Fulgent Genetics, Fulgent Genetics 4 6 17 4 2 0 0 33
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
OMIM 13 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 4 1 0 0 0 0 9
3billion 5 1 3 0 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 1 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 4 1 0 0 0 0 8
MGZ Medical Genetics Center 1 3 2 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 1 0 0 0 0 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 1 0 1 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
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 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
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 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
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
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
New York Genome Center 0 1 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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