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	total
37	19	509	451	40	1055

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	24	17	396	333	32	801
LOC121832793, LTBP3	3	1	47	68	5	124
LOC130006029, LTBP3	3	1	21	14	1	40
LOC130006027, LTBP3	2	0	13	18	0	33
LOC130006030, LTBP3	3	0	19	7	1	30
LOC130006032, LTBP3	2	0	8	8	0	18
LOC130006028, LTBP3	0	0	3	3	1	7
LTBP3, SCYL1	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	26	15	508	451	40	1040
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
Mendelics	0	1	0	0	0	1
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	1	0	0	0	0	1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco	0	1	0	0	0	1

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