ClinVar Miner

Variants in gene CRPPA

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Gene type:
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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
35 12 201 69 55 1 330

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 12 3 91 23 35 0 152
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 89 22 13 0 124
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 11 5 33 3 2 0 54
not specified 0 0 7 27 14 0 42
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 15 0 1 0 2 0 18
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 2 1 1 0 0 0 3
ISPD-Related Disorder 0 1 0 0 0 1 2
Muscular dystrophy-dystroglycanopathy 1 1 0 0 0 0 2
See cases 0 0 0 1 1 0 2
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 89 22 13 0 124
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 0 84 7 6 0 108
Invitae 11 5 33 21 12 0 82
GeneDx 3 3 8 26 24 0 64
OMIM 15 0 0 0 0 0 15
PreventionGenetics,PreventionGenetics 0 0 0 3 9 0 12
Genetic Services Laboratory, University of Chicago 1 1 4 4 1 0 11
Athena Diagnostics Inc 0 0 3 1 3 0 7
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 1 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
Baylor Genetics 2 0 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Lineagen, Inc 1 0 0 0 0 0 1
ISCA site 1 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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