ClinVar Miner

Variants studied for Spondylometaphyseal dysplasia - Sutcliffe type

Coded as:
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
6 6 6 0 18 6 35

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
FN1 6 6 6 15 3 29
COL2A1 0 0 0 0 3 3
ATIC, FN1 0 0 0 1 0 1
FN1, FN1-DT 0 0 0 1 0 1
FN1, LOC122861289 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Genome-Nilou Lab 0 0 0 18 0 18
GeneReviews 0 0 0 0 6 6
SIB Swiss Institute of Bioinformatics 0 5 1 0 0 6
OMIM 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 1

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