ClinVar Miner

Variants studied for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Included ClinVar conditions (4):
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
54 9 109 29 40 239

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CSPP1 32 3 68 11 10 124
KIAA0586 16 5 20 14 25 79
ARFGEF1, CSPP1 2 1 20 4 5 31
IFT140 3 0 0 0 0 3
COPS5, CSPP1, PPP1R42 0 0 1 0 0 1
IFT140, LOC105371046 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 5 107 28 40 208
UW Hindbrain Malformation Research Program,University of Washington 17 0 0 0 0 17
OMIM 13 0 0 0 0 13
Laboratory of Medical Genetics, INSERM 4 0 0 0 0 4
Genetic Services Laboratory,University of Chicago 2 1 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1

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