ClinVar Miner

Variants in gene CRPPA

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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
53 20 359 186 81 1 636

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 30 11 146 122 22 0 330
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 152 21 36 0 209
not provided 12 6 107 45 38 0 196
not specified 1 0 6 17 13 0 31
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 17 1 6 0 1 0 23
Autosomal recessive limb-girdle muscular dystrophy type 2U 1 1 7 0 0 0 8
CRPPA-related condition 0 0 0 6 0 0 6
Inborn genetic diseases 0 0 5 1 0 0 6
See cases 0 0 1 1 1 0 3
ISPD-Related Disorder 0 1 0 0 0 1 2
CRPPA-related disorder 0 1 0 0 0 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 1 0 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 11 146 122 22 0 331
Illumina Laboratory Services, Illumina 0 0 152 21 36 0 209
GeneDx 4 2 19 44 34 0 103
Eurofins Ntd Llc (ga) 8 0 67 5 4 0 84
Revvity Omics, Revvity 2 4 32 0 0 0 38
PreventionGenetics, part of Exact Sciences 0 0 0 8 8 0 16
CeGaT Center for Human Genetics Tuebingen 2 0 3 10 1 0 16
OMIM 13 0 0 0 0 0 13
Athena Diagnostics Inc 0 0 4 2 4 0 10
Genetic Services Laboratory, University of Chicago 0 1 4 3 0 0 8
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 5 0 7
Ambry Genetics 0 0 5 1 0 0 6
Baylor Genetics 3 0 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 1 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
Clinical Genetics, Academic Medical Center 0 0 0 0 3 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
3billion 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
ISCA site 1 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 1

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