ClinVar Miner

Variants studied for achondrogenesis type IA

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
50 13 319 240 75 655

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TRIP11 50 13 318 240 75 654
ASB2, ATXN3, BTBD7, CALM1, CATSPERB, CCDC88C, CHGA, COX8C, CPSF2, DDX24, DGLUCY, FAM181A, FBLN5, GOLGA5, GON7, GPR68, IFI27, IFI27L1, IFI27L2, ITPK1, KCNK13, LGMN, LYSET, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R3A, PPP4R4, PRIMA1, PSMC1, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA2, SERPINA6, SLC24A4, TC2N, TDP1, TRIP11, TTC7B, UBR7, UNC79 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 37 7 230 228 56 558
Illumina Laboratory Services, Illumina 0 0 111 16 44 171
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 6
SIB Swiss Institute of Bioinformatics 3 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 1
Suma Genomics 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 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.