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 2 262 50 70 1 416

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 1 125 37 22 1 183
RAB18 5 0 80 5 29 0 119
RAB3GAP1 21 1 24 5 8 0 59
RAB3GAP1, ZRANB3 3 0 32 3 11 0 49
TBC1D20 5 0 1 0 0 0 6

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 239 33 64 0 336
Invitae 0 0 27 18 11 0 56
OMIM 25 0 0 0 0 0 25
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 0 1 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1

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