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
42 13 300 77 74 1 462

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 154 22 37 0 213
not provided 13 3 93 12 27 0 145
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 16 7 83 25 11 0 142
not specified 0 0 7 27 16 0 42
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 16 0 2 0 2 0 20
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 1 0 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 0 154 22 37 0 213
Invitae 16 7 83 29 12 0 147
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 11 0 84 7 6 0 108
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
Athena Diagnostics Inc 0 0 3 2 6 0 11
Genetic Services Laboratory, University of Chicago 1 1 4 3 2 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 4 2 0 0 9
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 7
Baylor Genetics 3 0 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 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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