ClinVar Miner

Variants in gene CRPPA

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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 total
31 9 192 53 38 291

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 0 89 22 13 124
not provided 11 2 88 1 7 108
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 7 4 24 6 10 51
not specified 0 0 7 27 14 42
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 15 0 1 0 2 18
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 3 1 0 0 0 3
Muscular dystrophy-dystroglycanopathy 1 1 0 0 0 2
See cases 0 0 0 1 1 2
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 89 22 13 124
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 0 84 7 6 108
Invitae 7 4 24 6 10 51
GeneDx 2 2 8 22 8 42
OMIM 15 0 0 0 0 15
PreventionGenetics 0 0 0 3 9 12
Genetic Services Laboratory, University of Chicago 1 1 4 4 1 11
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 4 4
Athena Diagnostics Inc 0 0 2 1 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
ISCA site 1 0 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1

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