Variants studied for Camptomelic dysplasia

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	not provided	total
48	23	104	88	32	2	283

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SOX9	37	17	86	69	26	2	223
LOC108021846, SOX9	11	5	18	19	6	0	59
FRS3, MDFI, PGC, TFEB	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	31	7	89	86	29	0	242
Illumina Laboratory Services, Illumina	0	1	9	1	1	0	12
Revvity Omics, Revvity	1	2	5	0	0	0	8
OMIM	6	0	0	0	0	0	6
University of Washington Center for Mendelian Genomics, University of Washington	0	4	0	0	0	0	4
Krakow/Cohn Lab, University of California, Los Angeles	4	0	0	0	0	0	4
Baylor Genetics	1	2	0	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	1	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
Kahle Lab, Yale University	0	1	0	0	0	0	1
The Raphael Recanati Genetics Institute, Rabin Medical Center	1	0	0	0	0	0	1
Institute of Human Genetics, Heidelberg University	1	0	0	0	0	0	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	1	0	0	0	0	0	1
3billion	0	1	0	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	0	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	1	0	0	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	0	1

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