ClinVar Miner

Variants studied for Spondyloepimetaphyseal dysplasia, Strudwick type

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
11 6 0 0 1 17

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic benign total
COL2A1 11 6 0 16
FN1, FN1-DT 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic benign total
OMIM 5 0 0 5
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 3 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 0 0 2
Mendelics 0 0 1 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
3billion, Medical Genetics 0 1 0 1

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