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
77 21 166 90 45 321

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome 0 1 87 28 1 117
not specified 0 0 13 76 42 96
Orofaciodigital syndrome 6; Joubert syndrome 17 19 4 25 5 32 85
not provided 21 10 52 1 1 84
Joubert syndrome 17 50 5 12 7 9 79
Orofaciodigital syndrome 6 5 1 1 0 0 7
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 92 28 1 121
GeneDx 18 7 30 34 31 120
Invitae 23 3 23 5 32 86
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
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
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
Broad Institute Rare Disease Group,Broad Institute 0 1 2 0 0 3
Ambry Genetics 1 0 1 0 0 2
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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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