ClinVar Miner

Variants in gene CPLANE1

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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 total
83 27 173 149 76 404

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 22 11 57 74 62 213
Joubert syndrome 0 2 87 28 1 118
not specified 0 0 13 76 42 96
Joubert syndrome 17 53 7 12 7 9 84
Orofaciodigital syndrome 6; Joubert syndrome 17 19 4 29 3 5 60
Orofaciodigital syndrome 6 5 1 1 0 0 7
Joubert syndrome 1 2 3 0 0 0 5
Global developmental delay; Jaundice 3 0 0 0 0 3
Inborn genetic diseases 1 0 1 0 0 2
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 3 30 71 50 178
GeneDx 18 8 30 40 49 145
Illumina Clinical Services Laboratory,Illumina 0 0 92 28 1 121
PreventionGenetics,PreventionGenetics 0 0 0 16 36 52
Genetic Services Laboratory, University of Chicago 4 1 13 31 2 51
UW Hindbrain Malformation Research Program,University of Washington 38 1 0 0 0 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 2 19 2 11 38
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 7 6 13
OMIM 10 0 1 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 5 1 1 8
Broad Institute Rare Disease Group,Broad Institute 4 2 2 0 0 8
GeneReviews 6 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 6
Gharavi Laboratory,Columbia University 0 0 6 0 0 6
Mendelics 2 3 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 2
Ambry Genetics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 1 1

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