Variants studied for myotonic dystrophy type 1

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	other	total
187	1	11	1	18	1	217

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	total
DM1, DMPK, LOC107075317, LOC109461477	176	0	0	0	12	0	187
DMPK	5	1	6	0	2	0	14
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040	5	0	0	0	3	1	8
intergenic	1	0	0	0	1	0	2
DM1, DMPK, LOC107075317	0	0	2	0	0	0	2
DM1, DMPK, LOC107075317, LOC129929041	0	0	1	1	0	0	2
DM1, DMPK, LOC107075317, LOC129929042	0	0	1	0	0	0	1
DMPK, LOC107075317	0	0	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	other	total
Institute of Molecular, Cell and Systems Biology, University of Glasgow	146	0	0	0	0	0	146
Neuromuscular Research, Maastricht University Medical Centre	48	0	0	0	14	0	61
Revvity Omics, Revvity	0	0	7	0	0	0	7
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute	4	1	0	0	0	0	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	1	0	0	4
GeneReviews	1	0	0	0	2	0	3
American College of Medical Genetics and Genomics (ACMG)	1	0	0	0	1	1	3
Medical Genetics Section, University of Rome Tor Vergata	2	0	0	0	0	0	2
OMIM	1	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	0	1

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