Variants studied for Dilated cardiomyopathy 1I

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
5	9	35	14	7	66

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	total
DES	4	9	32	13	7	61
DES, DES-LCR	0	0	2	1	0	3
DES, LOC110121267, LOC126806518, SPEG	0	0	1	0	0	1
MYBPC3	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	25	13	6	44
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	1	0	0	3
New York Genome Center	0	0	3	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
OMIM	2	0	0	0	0	2
Baylor Genetics	0	0	2	0	0	2
KTest Genetics, KTest	0	2	0	0	0	2
KardioGenetik, Herz- und Diabeteszentrum NRW	2	0	0	0	0	2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	1	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Phosphorus, Inc.	0	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	1	0	1
Savagenome Genetic Health Clinic, Tarbiat Modares University	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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