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
61 27 159 53 64 1 362

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 4 4 133 53 43 0 236
COL6A1 19 11 7 0 8 0 43
COL6A2 28 7 7 0 0 1 43
COL6A3 10 5 12 0 13 0 40

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 2 132 53 43 0 232
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 39 15 0 0 0 0 54
Fulgent Genetics 0 0 26 0 0 0 26
Athena Diagnostics Inc 0 0 0 0 21 0 21
OMIM 18 0 0 0 0 0 18
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 7 0 0 0 10
Broad Institute Rare Disease Group,Broad Institute 0 2 1 0 0 0 3
Mayo Clinic Genetic Testing 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
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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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