Variants studied for Saethre-Chotzen syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
23	9	48	16	37	132

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	1	0	48	15	37	101
TWIST1	15	6	0	1	0	22
LOC129998021, TWIST1	4	3	0	0	0	6
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: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	47	15	37	100
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1	0	2
Invitae	1	0	0	0	0	1
Mendelics	0	1	0	0	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
Genomic Medicine Lab, University of California San Francisco	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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