ClinVar Miner

Variants studied for TRPV4-related bone disorder

Included ClinVar conditions (8):
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 not provided total
29 7 46 15 59 3 151

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPV4 29 7 43 14 59 3 147
MIR4497, TRPV4 0 0 3 1 0 0 4

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 36 13 59 0 107
OMIM 25 0 0 0 0 0 25
Fulgent Genetics, Fulgent Genetics 1 0 8 2 0 0 11
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Medical Genetics, Meyer Children Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 0 1 0 0 0 0 1

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