ClinVar Miner

Variants in gene RAB3GAP2

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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
11 4 121 46 20 182

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Martsolf syndrome 2 1 72 11 2 87
Warburg micro syndrome 0 0 72 11 2 85
not specified 0 0 18 30 10 50
not provided 3 1 20 4 8 36
Martsolf syndrome; Warburg micro syndrome 2 1 0 17 7 4 29
Warburg micro syndrome 2 5 1 0 0 0 6
Inborn genetic diseases 1 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 1
RAB3GAP2-Related Disorders 0 0 1 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 73 11 2 86
GeneDx 2 1 11 26 14 54
Genetic Services Laboratory, University of Chicago 1 0 20 9 2 32
Invitae 0 0 17 7 4 28
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 5 3 0 8
OMIM 6 0 0 0 0 6
GeneReviews 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
Lineagen Inc. 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
ISCA site 6 0 0 0 1 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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