ClinVar Miner

Variants studied for Fucosidosis

Coded as:
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
24 7 42 17 10 92

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FUCA1 24 6 42 17 10 91
DCX 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 27 5 6 38
Invitae 3 0 12 13 9 37
OMIM 11 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 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 3 0 0 4
Research Laboratory of Human Genome and Multifactorial Diseases,Faculty of Pharmacy, University of Monastir 4 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 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
Fulgent Genetics,Fulgent Genetics 0 0 1 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
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1

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