ClinVar Miner

Variants studied for spondylometaphyseal dysplasia, 'corner fracture' type

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
9 8 73 74 25 6 187

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FN1 7 8 58 46 18 3 132
COL2A1 2 0 6 11 3 3 25
ATIC, FN1 0 0 4 3 1 0 8
FN1, LOC126806496 0 0 3 3 0 0 6
FN1, LOC126806498 0 0 1 5 0 0 6
FN1, LOC122861289 0 0 0 3 1 0 4
FN1, LOC126806497 0 0 1 2 1 0 4
FN1, FN1-DT 0 0 0 0 1 0 1
FN1, LOC126806499 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 0 65 74 7 0 149
Genome-Nilou Lab 0 0 0 0 18 0 18
GeneReviews 0 0 0 0 0 6 6
SIB Swiss Institute of Bioinformatics 0 5 1 0 0 0 6
OMIM 4 0 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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