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)

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
55	29	757	634	42	1516

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	total
LTBP3	35	24	585	467	33	1143
LOC121832793, LTBP3	4	1	71	95	5	176
LOC130006029, LTBP3	5	2	34	19	2	62
LOC130006027, LTBP3	4	0	22	23	0	49
LOC130006030, LTBP3	4	1	23	13	1	42
LOC130006032, LTBP3	3	1	15	11	0	30
LOC130006028, LTBP3	0	0	4	6	1	11
LTBP3, SCYL1	0	0	3	0	0	3

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	43	22	757	634	42	1498
OMIM	9	0	0	0	0	9
Baylor Genetics	0	0	3	0	0	3
Institute of Human Genetics, University of Ulm	3	0	0	0	0	3
3billion	2	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	2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco	0	1	0	0	0	1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	1	0	0	0	1
Mendelics	0	1	0	0	0	1
Rare Diseases Genetics and Genomics, Islamia College Peshawar	1	0	0	0	0	1

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