ClinVar Miner

Variants studied for pseudoachondroplasia

Included ClinVar conditions (3):
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
21 20 40 8 21 11 117

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COMP 21 20 40 8 21 11 117

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 33 8 21 0 62
GeneReviews 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 8 0 0 0 0 10
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 5 4 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 2 0 1 0 2 0 5
Mendelics 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 3
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 1

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