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
63 89 182 310 99 13 682

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 49 21 69 282 89 6 509
Megalencephalic leukoencephalopathy with subcortical cysts 1 29 77 98 24 56 7 261
Megalencephalic leukoencephalopathy with subcortical cysts 9 5 14 16 17 0 61
not specified 0 0 8 13 18 0 31
Inborn genetic diseases 1 0 25 3 0 0 29
MLC1-related disorder 0 0 1 12 1 0 14
Abnormality of the nervous system 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 17 61 275 26 0 426
Illumina Laboratory Services, Illumina 1 1 70 12 35 0 119
GeneDx 3 3 5 0 58 0 69
Breakthrough Genomics, Breakthrough Genomics 0 0 2 7 50 0 59
Baylor Genetics 17 30 3 0 0 0 50
Natera, Inc. 5 1 10 13 16 0 45
Genome-Nilou Lab 0 0 4 9 31 0 44
Counsyl 2 22 15 2 1 0 42
PreventionGenetics, part of Exact Sciences 0 0 1 12 19 0 32
Fulgent Genetics, Fulgent Genetics 5 19 4 2 0 0 30
Ambry Genetics 1 0 25 3 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 8 3 1 0 20
Myriad Genetics, Inc. 1 15 0 0 0 0 16
CeGaT Center for Human Genetics Tuebingen 1 2 2 8 1 0 14
OMIM 11 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 1 1 0 8 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 1 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 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
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 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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