Variants studied for Treacher Collins syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level:
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
37	4	16	21	7	1	86

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	37	4	16	21	7	1	86

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	23	3	10	1	1	0	38
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
Genetic Services Laboratory, University of Chicago	3	0	0	0	0	0	3
Johns Hopkins Genomics,Johns Hopkins University	2	0	1	0	0	0	3
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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