ClinVar Miner

Variants studied for Saethre-Chotzen syndrome

Included ClinVar conditions (6):
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 total
70 21 122 44 42 293

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR2 10 2 71 31 37 150
TWIST1 46 11 37 10 5 106
LOC129998021, TWIST1 11 8 14 3 0 34
AGMO, AGR2, AGR3, AHR, ANKMY2, BZW2, CRPPA, DGKB, FERD3L, HDAC9, ITGB8, LRRC72, MACC1, MEOX2, POLR1F, PRPS1L1, SNX13, SOSTDC1, TMEM196, TSPAN13, TWIST1 1 0 0 0 0 1
FERD3L, TWIST1 1 0 0 0 0 1
FGFR3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 42 11 49 11 5 118
Illumina Laboratory Services, Illumina 1 0 47 15 37 100
Fulgent Genetics, Fulgent Genetics 9 2 27 17 1 56
OMIM 11 0 0 0 0 11
Department of Medical Genetics, Oslo University Hospital 3 4 0 0 0 7
Klinisk genetik och genomik Research, Gothenburg University 2 2 0 0 0 4
3billion 3 0 0 0 0 3
Mendelics 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Skeletal Dysplasia Laboratory, Hospital Universitario La Paz 1 0 0 0 0 1

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