ClinVar Miner

Variants studied for Ullrich congenital muscular dystrophy

Included ClinVar conditions (7):
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
48 22 690 200 74 4 1032

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL12A1 23 10 646 199 53 1 928
COL6A3 5 3 18 1 13 1 41
COL6A2 13 5 13 0 0 2 33
COL6A1 7 4 13 0 8 0 30

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 6 642 198 53 0 918
Fulgent Genetics,Fulgent Genetics 0 0 26 0 0 0 26
Athena Diagnostics Inc 0 0 0 0 21 0 21
Baylor Genetics 4 1 14 0 0 0 19
OMIM 18 0 0 0 0 0 18
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 9 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 7 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Broad Institute Rare Disease Group, Broad Institute 0 2 1 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1

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