ClinVar Miner

Variants studied for amelogenesis imperfecta, type 3A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
22 0 2 1 3 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
FAM83H 22 2 1 3 28

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign total
OMIM 13 0 0 0 13
Wang Lab, School of Dentistry, National Taiwan University 5 0 0 0 5
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 3 1 0 0 4
Genome-Nilou Lab 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2
Mendelics 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 1
Dental Genetics Laboratory, Seoul National University School of Dentistry 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1
Pars Genome Lab 0 0 1 0 1

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