ClinVar Miner

Variants studied for Ullrich congenital muscular dystrophy 2

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 not provided total
54 25 1249 1220 136 15 2651

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 not provided total
COL12A1 52 24 1215 1186 131 15 2575
COL12A1, LOC126859712 1 0 32 32 5 0 70
COL12A1, LOC129996730 1 1 2 2 0 0 6

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 20 1224 1212 134 0 2641
Fulgent Genetics, Fulgent Genetics 0 1 29 13 0 0 43
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
Genome-Nilou Lab 0 0 0 0 6 0 6
Baylor Genetics 0 1 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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