ClinVar Miner

Variants in gene combination FAM20A, PRKAR1A

See also:
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
16 7 40 45 29 131

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 1 30 40 27 103
Amelogenesis imperfecta type 1G 9 6 8 5 2 30
Inborn genetic diseases 0 0 9 0 0 9
FAM20A-related condition 0 0 1 3 0 4
Hereditary cancer-predisposing syndrome 0 0 0 2 2 4
not specified 0 0 0 0 3 3
Carney complex, type 1 2 0 0 0 0 2
Acrodysostosis 0 0 0 1 0 1
Carney complex 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 0 26 39 11 83
GeneDx 1 0 2 0 18 21
Fulgent Genetics, Fulgent Genetics 2 0 5 5 0 12
Ambry Genetics 0 0 9 0 0 9
PreventionGenetics, part of Exact Sciences 0 0 1 3 2 6
OMIM 5 0 0 0 0 5
Sema4, Sema4 0 0 0 2 2 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 1 4
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 2 2 0 0 0 4
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 2 2 0 0 4
Genome-Nilou Lab 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 1 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Medical Molecular Genetics, National Research Centre 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Wang Lab, School of Dentistry, National Taiwan University 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 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.