Variants studied for RYR1-related myopathy

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	29	42	3	6	96

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
RYR1	18	29	41	3	4	93
LOC126862902, RYR1	0	0	1	0	2	3

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen	6	3	8	3	6	26
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	8	1	16	0	0	25
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	8	11	0	0	19
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	1	11	0	0	0	12
Molecular Genetics, Royal Melbourne Hospital	1	0	10	0	0	11
Pediatric Department, Peking University First Hospital	1	4	0	0	0	5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	2	0	0	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan	1	0	0	0	0	1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	0	1	0	0	0	1

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