Variants studied for cartilage-hair hypoplasia

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
30	108	192	6	7	321

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RMRP	29	107	192	6	7	320
CCDC107, RMRP	1	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Natera, Inc.	5	25	122	5	7	164
Counsyl	2	60	63	1	0	126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	15	43	0	0	0	58
Fulgent Genetics, Fulgent Genetics	6	17	25	1	0	49
OMIM	19	0	0	0	0	19
3billion	1	1	2	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Undiagnosed Diseases Network, NIH	1	0	1	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	2	0	0	2
GeneReviews	1	0	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Department of Pediatrics, University of Modena and Reggio Emilia	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.