Variants studied for Myopathy, centronuclear, 5

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
8	5	55	2	10	1	79

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ASIC4, SPEG	5	4	25	1	7	0	40
SPEG	3	1	29	1	2	1	37
CYP1B1	0	0	1	0	0	0	1
NF1	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Revvity Omics, Revvity	1	1	37	1	0	0	40
Baylor Genetics	0	0	10	0	0	0	10
Genome-Nilou Lab	0	0	0	0	9	0	9
OMIM	5	0	0	0	0	0	5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	2	1	0	1	0	5
Fulgent Genetics, Fulgent Genetics	0	1	2	1	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	0	0	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	2	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	0	1
3billion	0	0	1	0	0	0	1
Suma Genomics	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1

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