Variants studied for dental enamel hypoplasia

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
149	52	320	42	93	6	651

Gene and significance breakdown #

Total genes and gene combinations: 29

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
WDR72	9	7	111	16	12	0	155
ENAM	9	3	79	5	15	0	109
DLX3	3	3	35	6	26	0	71
MMP20	9	5	50	1	6	0	69
LAMB3	15	5	8	0	23	0	51
FAM83H	22	0	2	1	3	3	31
FAM20A, PRKAR1A	9	6	8	5	2	0	30
FAM20A	6	2	6	7	1	0	22
COL17A1	12	6	2	0	0	0	20
AMELX, ARHGAP6	12	2	0	0	0	3	17
ACP4	7	3	5	0	0	0	13
AMBN	4	3	4	1	0	0	10
ITGB6	5	3	0	0	2	0	9
KLK4	5	1	1	0	0	0	7
RELT	5	2	0	0	0	0	7
SLC24A4	5	0	1	0	0	0	6
GPR68	4	0	1	0	0	0	5
ODAPH	5	0	0	0	0	0	5
COL7A1	0	0	3	0	0	0	3
SP6	2	0	0	0	0	0	2
ACP4, LOC130065006	0	0	1	0	0	0	1
AMTN	1	0	0	0	0	0	1
BNC2	0	0	0	0	1	0	1
CHCHD2	0	0	0	0	1	0	1
CTSK	0	0	1	0	0	0	1
LAMB3, LOC126805999	0	0	1	0	0	0	1
LAMC2	0	0	1	0	0	0	1
LTBP3	0	1	0	0	0	0	1
PSPH	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 43

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	1	268	26	50	0	345
OMIM	79	0	0	0	0	0	79
Fulgent Genetics, Fulgent Genetics	16	4	21	15	1	0	57
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	4	18	23	0	0	0	45
Genome-Nilou Lab	0	0	0	0	41	0	41
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	27	10	2	0	0	0	39
Dental Genetics Laboratory, Seoul National University School of Dentistry	16	0	4	0	0	0	20
Wang Lab, School of Dentistry, National Taiwan University	8	0	0	0	0	0	8
Medical Biology Lab, Gaziantep University	0	0	0	0	0	6	6
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	3	3	0	0	0	0	6
Baylor Genetics	1	1	3	0	0	0	5
Institute of Human Genetics, University of Ulm	1	0	0	0	3	0	4
Revvity Omics, Revvity	1	1	1	0	0	0	3
Mendelics	1	1	1	0	0	0	3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	2	0	1	0	0	0	3
Lifecell International Pvt. Ltd	0	3	0	0	0	0	3
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology	1	2	0	0	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	2	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	2	0	0	0	0	0	2
3billion	1	0	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
MGZ Medical Genetics Center	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	0	1
Division of Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University	1	0	0	0	0	0	1
The Fourth Military Medical University, School of Stomatology	1	0	0	0	0	0	1
Human Genetics Department, Tarbiat Modares University	0	0	1	0	0	0	1
Medical Molecular Genetics, National Research Centre	0	1	0	0	0	0	1
Pars Genome Lab	0	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	0	1
Genetic Diagnostics Department, Viafet Genomics Laboratory	0	1	0	0	0	0	1
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco	0	1	0	0	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	1	0	0	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	1	0	0	0	0	1

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