ClinVar Miner

Variants in gene ENAM

Minimum submission review status: Collection method:
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Gene type:
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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
11 7 184 23 29 241

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 92 6 0 98
Amelogenesis imperfecta 1 0 76 5 15 97
not provided 4 4 10 10 27 51
Amelogenesis imperfecta - hypoplastic autosomal dominant - local 7 2 4 0 0 12
ENAM-related disorder 2 1 2 3 1 9
Amelogenesis Imperfecta, Dominant 0 0 2 2 0 4
Amelogenesis imperfecta type 1C; Amelogenesis imperfecta - hypoplastic autosomal dominant - local 1 1 2 0 0 4
not specified 0 0 2 0 2 4
Amelogenesis imperfecta type 1C 2 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 78 7 15 100
Ambry Genetics 0 0 92 6 0 98
Breakthrough Genomics, Breakthrough Genomics 0 0 5 2 16 23
GeneDx 2 2 4 0 13 21
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1 6 7 15
PreventionGenetics, part of Exact Sciences 2 1 2 3 3 11
CeGaT Center for Human Genetics Tuebingen 2 0 0 4 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 4 0 0 6
OMIM 4 0 0 0 0 4
Dental Genetics Laboratory, Seoul National University School of Dentistry 3 0 0 0 0 3
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 1 1 1 0 0 3
Revvity Omics, Revvity 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 1 0 0 0 1
Wang Lab, School of Dentistry, National Taiwan University 1 0 0 0 0 1

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