ClinVar Miner

Variants studied for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Included ClinVar conditions (1):
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
3 5 6 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYO18B 3 5 6 13

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 2 3
OMIM 2 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 1

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