ClinVar Miner

Variants studied for arthrogryposis, distal, with impaired proprioception and touch

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
13 3 17 0 1 34

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PIEZO2 13 3 17 1 34

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 8 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 5
Illumina Clinical Services Laboratory,Illumina 1 0 3 0 4
Mendelics 2 0 0 1 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 3
Undiagnosed Diseases Network,NIH 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 2
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 1
Department of Pediatrics,Uniklinik RWTH Aachen 1 0 0 0 1

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