ClinVar Miner

Variants studied for Congenital muscular dystrophy due to integrin alpha-7 deficiency

Coded as:
Minimum submission review status: Collection method:
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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
38 25 412 322 53 3 835

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
ITGA7 30 20 344 278 46 3 704
ITGA7, LOC126861535 7 5 68 44 6 0 129
CRPPA 1 0 0 0 0 0 1
ITGA7, TMT1B 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 10 377 320 51 0 792
Revvity Omics, Revvity 0 13 106 0 0 0 119
Fulgent Genetics, Fulgent Genetics 0 0 6 3 0 0 9
Baylor Genetics 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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