ClinVar Miner

Variants studied for Fraser syndrome

Included ClinVar conditions (3):
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
65 10 629 98 213 1005

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FRAS1 50 7 288 46 122 507
FREM2 12 2 252 32 81 377
GRIP1 3 1 74 20 10 106
ADAMTS14 0 0 1 0 0 1
AIPL1 0 0 1 0 0 1
ASPA, SPATA22 0 0 1 0 0 1
BCLAF1 0 0 1 0 0 1
BORCS6 0 0 1 0 0 1
GNB5 0 0 1 0 0 1
LSM10 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MPC1 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
ODAD1 0 0 1 0 0 1
PTCH1 0 0 1 0 0 1
TLCD3A 0 0 1 0 0 1
WDR81 0 0 1 0 0 1
ZXDA 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 600 97 208 904
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 34 3 6 0 0 43
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 33 35
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 15 0 0 16
OMIM 14 0 0 0 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 8 8
Baylor Genetics 1 2 3 0 0 6
Mendelics 0 0 0 0 6 6
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 1 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Shieh Lab,University of California, San Francisco 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
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 1 0 0 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 Fairview: University of Minnesota 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 1

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