ClinVar Miner

Variants studied for congenital contractural arachnodactyly

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 not provided total
20 23 615 221 121 2 955

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN2 20 22 615 221 121 2 954
FBN1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 14 494 185 72 0 771
Illumina Clinical Services Laboratory,Illumina 1 0 124 45 99 0 269
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 19 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 13 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 5 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 10 0 0 0 11
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
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Baylor Genetics 1 0 4 0 0 0 5
Mendelics 0 0 0 2 2 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
GeneReviews 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
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
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

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