Variants studied for Meckel syndrome, type 3

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
19	33	60	4	5	111

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TMEM67	19	33	60	4	5	111

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	54	4	5	63
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	30	0	0	0	30
OMIM	7	0	0	0	0	7
Baylor Genetics	2	0	2	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	3	0	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	0	3	0	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Sydney Genome Diagnostics, Children's Hospital Westmead	2	0	0	0	0	2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	1	1	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	0	1
3billion	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1

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