ClinVar Miner

Variants studied for Warburg micro syndrome

Included ClinVar conditions (6):
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 not provided total
40 2 174 39 18 1 271

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAB3GAP2 6 1 86 16 5 1 112
RAB18 5 0 54 13 9 0 81
RAB3GAP1 21 1 17 4 2 0 45
RAB3GAP1, ZRANB3 3 0 17 6 2 0 28
TBC1D20 5 0 0 0 0 0 5

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 160 34 15 0 209
OMIM 25 0 0 0 0 0 25
Invitae 0 0 16 5 3 0 24
GeneReviews 14 0 0 0 0 0 14
Baylor Genetics 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1

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