Variants studied for Bardet-Biedl syndrome 9

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
31	46	119	46	26	258

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	total
BBS9	31	46	117	46	25	255
BBS9, LOC129998228	0	0	2	0	1	3

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	5	4	64	36	1	110
Illumina Laboratory Services, Illumina	0	0	56	12	23	91
Baylor Genetics	20	34	1	0	0	55
OMIM	8	0	0	0	0	8
New York Genome Center	0	2	6	0	0	8
Genome-Nilou Lab	0	0	0	0	4	4
Mendelics	2	0	0	0	1	3
Revvity Omics, Revvity	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	2	0	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	1	0	0	0	2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	1	0	0	0	0	1
Department Of Medical Genetics, Faculty Of Medicine, Ege University	1	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	1	0	0	0	1
Ege University Pediatric Genetics, Ege University	1	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
DNA-diagnostics Laboratory, Research Centre For Medical Genetics	0	1	0	0	0	1
Department of Medical Genetics, Erciyes University Faculty of Medicine	1	0	0	0	0	1

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