ClinVar Miner

Variants studied for trismus-pseudocamptodactyly syndrome

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
1 0 93 19 10 123

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign total
MYH8, MYHAS 1 76 15 8 100
LOC126862494, MYH8, MYHAS 0 14 0 2 16
LOC126862493, MYH8, MYHAS 0 3 4 0 7

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 87 17 10 114
Genome-Nilou Lab 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 2
OMIM 1 0 0 0 1
Mendelics 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Dr.Nikuei Genetic Center 0 0 1 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.