ClinVar Miner

Variants studied for fucosidosis

Included ClinVar conditions (1):
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 total
63 20 135 173 16 385

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 total
FUCA1 57 18 108 141 12 320
FUCA1, LOC126805661 6 1 21 26 2 51
FUCA1, LOC129929685 0 0 6 6 2 13
DCX 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 46 9 109 169 15 348
Illumina Laboratory Services, Illumina 0 0 27 5 6 38
OMIM 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 2 0 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 3 1 0 4
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 3 0 0 4
Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir 4 0 0 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Laboratory of Genomics, National Research Institute of Animal Production 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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