ClinVar Miner

Variants studied for cryptophthalmia

Included ClinVar conditions (4):
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
26 3 394 105 80 600

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FRAS1 15 2 181 64 44 300
FREM2 9 1 163 33 29 234
GRIP1 2 0 50 8 7 66

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 389 103 74 565
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 33 35
OMIM 17 0 0 0 0 17
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 8 8
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1

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