ClinVar Miner

Variants studied for arthrogryposis multiplex congenita 6

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 total
98 386 60 18 60 616

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
NEB 64 262 47 17 47 431
NEB, RIF1 34 123 13 1 13 184
LOC126806373, NEB 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 81 373 3 0 0 457
Fulgent Genetics, Fulgent Genetics 13 14 43 17 2 89
Genome-Nilou Lab 0 0 3 1 59 63
OMIM 10 0 0 0 0 10
Istanbul Faculty of Medicine, Istanbul University 1 0 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
3billion 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 0 1 0 0 1
Suma Genomics 0 1 0 0 0 1
DASA 1 0 0 0 0 1

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