ClinVar Miner

Variants studied for Congenital contractural arachnodactyly

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 not provided total
41 53 900 1070 316 6 2289

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 not provided total
FBN2 41 53 870 1031 306 6 2215
FBN2, LOC126807501 0 0 28 39 10 0 72
FBN2, LOC126807502 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 34 756 1038 285 0 2141
Illumina Laboratory Services, Illumina 1 0 128 45 99 0 273
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 19 0 24
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 13 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 12 5 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 12 1 0 0 15
OMIM 9 0 0 0 0 0 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 2 1 0 0 7
Baylor Genetics 1 0 4 0 0 0 5
Mendelics 0 0 0 2 2 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
3billion 1 0 3 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 1 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 1

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