Variants studied for Metaphyseal chondrodysplasia, McKusick type

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
25	102	184	6	7	311

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RMRP	24	101	184	6	7	310
CCDC107, RMRP	1	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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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
OMIM	12	0	0	0	0	12
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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	2	0	0	2
GeneReviews	1	0	0	0	0	1
Myriad Genetics, Inc.	1	0	0	0	0	1
Department of Pediatrics, University of Modena and Reggio Emilia	1	0	0	0	0	1

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