ClinVar Miner

Variants studied for TRIP11-related skeletal dysplasia

Included ClinVar conditions (4):
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
56 17 313 207 74 623

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TRIP11 56 17 309 207 74 619
MIA3 0 0 3 0 0 3
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 34 7 217 195 55 508
Illumina Laboratory Services, Illumina 0 0 111 16 44 171
OMIM 13 0 0 0 0 13
SIB Swiss Institute of Bioinformatics 5 4 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 2 0 0 5
Baylor Genetics 1 0 2 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 1
3billion 0 0 0 1 0 1
Suma Genomics 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 1

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