ClinVar Miner

Variants studied for Meckel syndrome, type 6

Included ClinVar conditions (5):
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
33 38 127 6 18 214

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CC2D2A 29 36 127 6 18 208
CEP290 3 0 0 0 0 3
TCTN2 1 2 0 0 0 3

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 99 3 8 110
Fulgent Genetics, Fulgent Genetics 6 2 22 3 0 33
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 20 0 0 0 20
Juno Genomics, Hangzhou Juno Genomics, Inc 8 2 3 0 0 13
Genome-Nilou Lab 0 0 0 0 13 13
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 6 6 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 1 0 0 0 10
Baylor Genetics 3 1 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 2
OMIM 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
3billion 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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