ClinVar Miner

Variants studied for Congenital contractural arachnodactyly

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
50 74 1236 1402 364 11 3027

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 50 73 1194 1353 349 10 2925
FBN2, LOC126807501 0 1 40 49 15 1 100
FBN2, LOC126807502 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 43 1094 1371 333 0 2875
Illumina Laboratory Services, Illumina 1 0 119 41 98 0 259
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 19 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 16 1 0 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 12 5 0 17
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 13 0 17
GenomeConnect, ClinGen 0 0 0 0 0 9 9
OMIM 9 0 0 0 0 0 9
3billion 1 2 5 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 2 1 0 0 7
Mendelics 1 0 0 2 2 0 5
Baylor Genetics 1 0 3 0 0 0 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 0 0 0 0 4
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
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 1 0 0 2
Blueprint Genetics 0 1 0 0 0 0 1
Breda Genetics srl, 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 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
Laboratory of Molecular Genetics, CHU Rennes 1 0 0 0 0 0 1
Liaoning Province Research Institute of Family Planning, China Medical University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medical Genetics Clinic, Mersin Women and Children Hospital 0 1 0 0 0 0 1
Medical Genetics Department in Dongguan Maternal and Child Healthcare Hospital, Dongguan Maternal and Child Healthcare Hospital 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1

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