ClinVar Miner

Variants studied for mucolipidosis type II

Included ClinVar conditions (2):
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
236 190 327 760 62 64 1488

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GNPTAB 235 190 326 760 59 64 1483
GNPTAB, LOC130008555 0 0 1 0 2 0 3
​intergenic 1 0 0 0 0 0 1
GNPTAB, LOC124646390 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 205 39 181 739 46 0 1210
Natera, Inc. 23 4 77 20 17 0 141
Illumina Laboratory Services, Illumina 0 0 85 12 21 0 118
GeneReviews 27 0 0 0 0 64 91
Fulgent Genetics, Fulgent Genetics 19 33 13 5 0 0 70
Myriad Genetics, Inc. 1 64 0 0 0 0 65
Counsyl 15 23 21 0 0 0 59
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 27 1 1 0 0 30
Genome-Nilou Lab 1 0 9 0 11 0 21
OMIM 9 0 0 0 0 0 9
Baylor Genetics 5 0 4 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 2 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 1 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 0 3 0 0 0 5
Mendelics 1 2 0 1 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
3billion, Medical Genetics 2 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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