ClinVar Miner

Variants studied for Warburg micro syndrome 1

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
24 1 1 0 2 28

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
RAB3GAP1 21 1 0 2 24
RAB3GAP1, ZRANB3 3 0 1 0 4

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 11 0 0 0 11
GeneReviews 9 0 0 0 9
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 3
Baylor Genetics 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 1

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