ClinVar Miner

Variants studied for Meckel syndrome, type 3

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
19 35 60 4 5 113

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TMEM67 19 35 60 4 5 113

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 54 4 5 63
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 30 0 0 0 30
OMIM 7 0 0 0 0 7
Baylor Genetics 2 0 2 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 1 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
3billion 0 0 1 0 0 1

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