ClinVar Miner

Variants studied for otofaciocervical syndrome

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 total
11 7 84 30 49 171

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 total
EYA1 5 5 73 30 49 154
PAX1 6 2 11 0 0 17

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 52 13 45 110
Fulgent Genetics, Fulgent Genetics 3 3 18 16 1 41
OMIM 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Baylor Genetics 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Mendelics 0 0 1 0 1 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 1

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