ClinVar Miner

Variants in gene INPP5E

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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
29 25 191 105 47 343

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome 23 4 123 50 28 223
Joubert syndrome 1 5 2 61 6 18 92
not specified 0 0 6 41 26 58
not provided 2 5 10 22 7 46
Rod-cone dystrophy 0 11 8 0 0 19
Retinal dystrophy 1 2 7 0 0 10
Inborn genetic diseases 0 2 1 0 0 3
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Interstitial pulmonary abnormality; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus 1 0 0 0 0 1
Joubert syndrome and related disorders 0 1 0 0 0 1
Leber congenital amaurosis 0 1 0 0 0 1
MORM syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 4 121 64 29 228
Illumina Clinical Services Laboratory,Illumina 0 0 52 7 19 78
GeneDx 2 4 4 21 20 51
PreventionGenetics, PreventionGenetics 0 0 0 10 23 33
Genetic Services Laboratory, University of Chicago 0 0 4 15 1 20
Ocular Genomics Institute, Massachusetts Eye and Ear 0 11 8 0 0 19
UW Hindbrain Malformation Research Program,University of Washington 14 0 0 0 0 14
Blueprint Genetics 1 2 7 0 0 10
OMIM 5 0 0 0 0 5
Baylor Genetics 1 0 4 0 0 5
Gharavi Laboratory,Columbia University 0 0 5 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 4
Ambry Genetics 0 2 1 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 2 3
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 1

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