Variants studied for Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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
2	4	1904	1144	410	4	3240

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	not provided	total
SYNE2	2	4	1898	1144	407	4	3231
LOC130055816, SYNE2	0	0	6	0	3	0	9

Submitter and significance breakdown #

Total submitters: 29

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	0	0	1600	1082	244	0	2926
Illumina Laboratory Services, Illumina	0	0	147	62	293	0	502
Revvity Omics, Revvity	0	0	322	17	0	0	339
Genome-Nilou Lab	0	0	0	0	24	0	24
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	4	17	0	21
Fulgent Genetics, Fulgent Genetics	0	0	5	10	1	0	16
Baylor Genetics	0	0	11	0	0	0	11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	2	8	0	10
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	7	0	0	0	7
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	5	1	1	0	7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	3	0	4
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	3	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	1	0	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	1	0	0	0	2
Human Genetics Bochum, Ruhr University Bochum	0	1	1	0	0	0	2
OMIM	1	0	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	0	1	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Breda Genetics srl	0	0	0	1	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	0	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	0	1

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