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
85 294 58 18 60 510

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 55 192 45 17 47 351
NEB, RIF1 30 101 13 1 13 158
LOC126806373, NEB 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 68 282 2 0 0 352
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
DASA 1 0 0 0 0 1

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