ClinVar Miner

Variants in gene MLC1

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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 not provided total
55 78 169 301 98 13 646

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 42 20 66 273 75 6 475
Megalencephalic leukoencephalopathy with subcortical cysts 1 28 65 98 23 56 7 250
Megalencephalic leukoencephalopathy with subcortical cysts 8 3 14 16 17 0 58
not specified 0 0 4 10 18 0 24
MLC1-related condition 0 0 1 12 1 0 14
Inborn genetic diseases 1 0 9 0 0 0 10
Abnormality of the nervous system 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 17 59 269 26 0 411
Illumina Laboratory Services, Illumina 0 1 72 12 35 0 120
GeneDx 3 2 4 0 58 0 67
Natera, Inc. 5 1 10 13 16 0 45
Genome-Nilou Lab 0 0 4 9 31 0 44
Baylor Genetics 14 25 3 0 0 0 42
Counsyl 2 22 15 2 1 0 42
PreventionGenetics, part of Exact Sciences 0 0 1 12 19 0 32
Myriad Genetics, Inc. 1 15 0 0 0 0 16
OMIM 11 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 4 0 1 0 11
Fulgent Genetics, Fulgent Genetics 1 4 4 2 0 0 11
CeGaT Center for Human Genetics Tuebingen 1 2 2 5 1 0 11
Genetic Services Laboratory, University of Chicago 1 1 0 8 0 0 10
Ambry Genetics 1 0 9 0 0 0 10
Revvity Omics, Revvity 2 3 2 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Eurofins Ntd Llc (ga) 0 0 4 2 0 0 6
UniProtKB/Swiss-Prot 0 0 0 0 0 6 6
3billion 2 0 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 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
AiLife Diagnostics, AiLife Diagnostics 1 0 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Mendelics 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 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
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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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