ClinVar Miner

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

Included ClinVar conditions (1):
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
18 6 206 63 30 2 324

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ITGA7 17 6 206 63 30 2 323
CRPPA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 4 201 63 30 0 311
Baylor Genetics 0 0 7 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 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
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1

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