ClinVar Miner

Variants studied for leukoencephalopathy, megalencephalic

Included ClinVar conditions (8):
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 not provided total
48 86 195 48 83 15 425

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 not provided total
MLC1 32 71 110 38 64 7 283
HEPACAM 9 5 59 6 14 7 92
HEPACAM, HEPN1 0 0 18 3 4 0 25
LOC125446261, MLC1 4 9 7 1 1 1 20
AQP4 1 0 1 0 0 0 2
GPRC5B 2 0 0 0 0 0 2
GSTT2, GSTT2B 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 133 19 54 0 207
Baylor Genetics 19 36 7 0 0 0 62
Natera, Inc. 6 2 11 14 17 0 50
Genome-Nilou Lab 0 0 4 9 33 0 46
Counsyl 2 22 16 2 1 0 43
OMIM 22 0 0 0 0 0 22
Fulgent Genetics, Fulgent Genetics 1 4 9 4 0 0 18
Myriad Genetics, Inc. 1 16 1 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 0 13
GeneReviews 0 0 0 0 0 12 12
Revvity Omics, Revvity 2 3 3 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 2 0 0 0 5
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 4 0 0 0 5
3billion 2 0 2 1 0 0 5
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 2 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 0 0 0 4
Mendelics 1 0 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 0 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Biological Sciences, International Islamic University, Islamabad 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 0 1
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital 0 0 1 0 0 0 1

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