ClinVar Miner

Variants studied for Joubert syndrome 5

Coded as:
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
40 5 2 0 1 48

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CEP290 40 5 1 1 47
C12orf29, CEP290 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign total
UW Hindbrain Malformation Research Program,University of Washington 30 0 0 0 30
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 0 0 6
OMIM 4 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 2 0 0 3
Broad Institute Rare Disease Group,Broad Institute 0 3 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 1

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