ClinVar Miner

Variants studied for Arthrogryposis multiplex congenita 6

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
80 285 12 1 59 436

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 52 185 11 1 46 294
NEB, RIF1 28 99 1 0 13 141
LOC126806373, NEB 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 68 282 2 0 0 352
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
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
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
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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