Variants studied for Treacher Collins syndrome 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	not provided	total
66	7	25	48	53	1	195

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	not provided	total
TCOF1	66	7	25	48	53	1	195

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	49	5	18	28	47	0	147
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust	0	0	2	19	5	0	26
OMIM	11	0	0	0	0	0	11
Mendelics	2	0	1	1	1	0	5
Johns Hopkins Genomics, Johns Hopkins University	3	0	1	1	0	0	5
Genetic Services Laboratory, University of Chicago	3	0	0	0	0	0	3
Autoinflammatory diseases unit,CHU de Montpellier	2	1	0	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	1	0	0	0	0	2
Centre for Mendelian Genomics,University Medical Centre Ljubljana	1	0	1	0	0	0	2
Institute of Human Genetics, Klinikum rechts der Isar	1	0	0	0	0	0	1
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	1	0	0	0	0	0	1
Medical Molecular Genetics Department, National Research Center	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	1	0	0	0	0	0	1

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