ClinVar Miner

Variants studied for anophthalmia-microphthalmia syndrome

Included ClinVar conditions (57):
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
219 72 391 144 96 1 897

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 10 30 58 50 14 0 155
RAB3GAP2 5 1 82 18 6 0 109
RAB18 5 0 54 13 9 0 81
C1QTNF5, MFRP 4 1 53 7 1 0 66
VSX2 4 0 43 15 5 0 64
BCOR 16 4 18 2 24 0 63
ERCC6, ERCC6-PGBD3 1 14 14 9 5 0 42
RAB3GAP1 19 0 17 4 2 0 42
BIVM-ERCC5, ERCC5 15 3 5 7 9 0 34
RAB3GAP1, ZRANB3 3 0 17 6 2 0 28
STRA6 16 0 1 3 7 0 27
SOX2, SOX2-OT 19 0 4 1 0 0 24
OTX2 15 0 2 0 3 0 20
ERCC6, ERCC6-PGBD3, PGBD3 1 1 8 5 1 0 16
PRSS56 10 0 2 0 1 0 13
RARB 4 4 3 0 1 0 11
BMP4 6 0 2 0 2 0 10
ERCC2 5 1 1 0 0 1 7
GDF6 4 0 0 1 2 0 7
GDF3 4 0 1 0 0 0 5
HCCS 4 1 0 0 0 0 5
LRBA, MAB21L2 5 4 0 0 0 0 5
RAX 4 0 0 1 0 0 5
TBC1D20 5 0 0 0 0 0 5
TENM3 3 2 0 0 0 0 5
ALDH1A3, LOC101927751 2 1 0 1 0 0 4
ERCC1 2 1 1 0 0 0 4
NAA10 1 3 0 0 0 0 4
SOX2 4 0 0 0 0 0 4
VAX1 1 0 2 1 0 0 4
ABCB6 2 0 1 0 0 0 3
ALDH1A3 1 0 0 0 2 0 3
COX7B 3 0 0 0 0 0 3
TMEM98 3 0 0 0 0 0 3
ERCC5 2 0 0 0 0 0 2
HMX1 2 0 0 0 0 0 2
NDUFB11 2 0 0 0 0 0 2
RBP4 2 0 0 0 0 0 2
SHH 1 0 1 0 0 0 2
WNT7B 1 1 0 0 0 0 2
HMGB3 1 0 0 0 0 0 1
MYRF 1 0 0 0 0 0 1
SIX6 0 0 1 0 0 0 1
SOX2, SOX2-OT, SOX2-SRR2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 307 109 37 0 453
OMIM 178 0 0 0 0 0 178
Invitae 11 1 45 22 47 0 126
Counsyl 7 45 30 6 0 0 88
Fulgent Genetics 9 0 12 0 0 0 21
GeneReviews 19 0 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 7 7 0 17
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 5 6 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 4 4 0 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 8 0 9
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 2 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 0 0 0 3
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Eye Genetics Research Group,Children's Medical Research Institute 0 0 2 0 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Division of Critical Care, Department of Pediatrics,Cardinal Glennon Children's Hospital 1 0 0 0 0 0 1

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