Variants studied for brachyolmia-amelogenesis imperfecta syndrome

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
37	19	506	453	40	3	1052

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LTBP3	24	17	393	335	32	3	798
LOC121832793, LTBP3	3	1	47	68	5	0	124
LOC130006029, LTBP3	3	1	21	14	1	0	40
LOC130006027, LTBP3	2	0	13	18	0	0	33
LOC130006030, LTBP3	3	0	19	7	1	0	30
LOC130006032, LTBP3	2	0	8	8	0	0	18
LOC130006028, LTBP3	0	0	3	3	1	0	7
LTBP3, SCYL1	0	0	2	0	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	26	15	505	451	40	0	1037
OMIM	9	0	0	0	0	0	9
Fulgent Genetics, Fulgent Genetics	0	0	1	2	1	0	4
Baylor Genetics	0	0	3	0	0	0	3
Institute of Human Genetics, University of Ulm	3	0	0	0	0	0	3
GenomeConnect, ClinGen	0	0	0	0	0	3	3
3billion	2	0	0	0	0	0	2
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	0	2	0	0	0	0	2
Mendelics	0	1	0	0	0	0	1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	1	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco	0	1	0	0	0	0	1

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