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
97 385 59 18 60 613

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 63 261 46 17 47 428
NEB, RIF1 34 123 13 1 13 184
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 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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 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
DASA 1 0 0 0 0 1

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