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
100 42 286 165 79 559

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 53 21 138 86 31 314
Joubert syndrome 17 57 13 154 24 35 269
not specified 0 0 16 76 42 99
Orofaciodigital syndrome type 6; Joubert syndrome 17 16 4 25 12 38 95
Joubert syndrome 1 3 5 2 0 11
Orofaciodigital syndrome type 6 9 1 1 0 0 11
Joubert syndrome 1 2 2 0 0 0 4
Nephronophthisis 0 1 3 0 0 4
Global developmental delay; Jaundice 3 0 0 0 0 3
Inborn genetic diseases 2 0 1 0 0 3
Polydactyly; Encephalocele; Dysgenesis of the cerebellar vermis; Median cleft lip and palate 0 2 0 0 0 2
See cases 1 1 0 0 0 2
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 36 9 94 88 50 276
Illumina Clinical Services Laboratory,Illumina 0 0 142 23 30 195
GeneDx 18 8 30 40 49 145
PreventionGenetics, PreventionGenetics 0 0 0 16 36 52
Genetic Services Laboratory, University of Chicago 4 1 12 31 3 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
Baylor Genetics 3 1 13 0 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 8 2 4 3 0 17
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 1 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 3 2 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
Sydney Genome Diagnostics,Children's Hospital Westmead 0 1 3 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 4
Ambry Genetics 2 0 1 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 3
Integrated Genetics/Laboratory Corporation of America 0 0 3 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 2
Lineagen, Inc 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 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

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