ClinVar Miner

Variants studied for Joubert syndrome 14

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 9 214 116 26 377

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
TMEM237 26 9 203 113 23 357
LOC129935417, TMEM237 0 0 10 3 3 16
ALS2, MPP4, TMEM237 1 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 1
C2CD6, TMEM237 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 4 138 95 22 281
Illumina Laboratory Services, Illumina 0 0 77 19 7 103
OMIM 5 0 0 0 0 5
Revvity Omics, Revvity 2 0 3 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 0 0 4
Baylor Genetics 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
UW Hindbrain Malformation Research Program, University of Washington 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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