ClinVar Miner

Variants studied for Congenital contractural arachnodactyly

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
14 11 288 156 85 496

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN2 14 11 288 156 85 496

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 4 226 74 67 373
Illumina Clinical Services Laboratory,Illumina 0 0 71 88 16 175
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 19 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 13 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 5 17
OMIM 9 0 0 0 0 9
Center for Human Genetics, Inc 2 2 2 1 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Blueprint Genetics, 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 0 0 0 1

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