Variants studied for contractures, pterygia, and variable skeletal fusions 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
18	6	10	2	22	52

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MYH3	18	6	10	2	22	52

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	22	22
OMIM	11	0	0	0	0	11
Clinical Genetics Group, University of Otago	6	0	1	0	0	7
Fulgent Genetics, Fulgent Genetics	0	1	1	2	1	5
University of Washington Center for Mendelian Genomics, University of Washington	3	0	0	0	0	3
SIB Swiss Institute of Bioinformatics	0	2	1	0	0	3
3billion	0	0	3	0	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	2
Joe DiMaggio Children's Hospital, Memorial Healthcare System	2	0	0	0	0	2
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1

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