ClinVar Miner

Variants studied for branchiootic syndrome

Included ClinVar conditions (7):
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
23 21 129 59 64 7 286

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EYA1 17 8 64 30 43 0 153
SIX1 6 11 53 28 21 7 118
MIR9718, SIX1 0 2 8 1 0 0 11
LOC130055766, SIX1 0 0 2 0 0 0 2
MNAT1, SIX1, SIX4, SIX6, TRMT5 0 0 1 0 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 65 16 58 0 139
Labcorp Genetics (formerly Invitae), Labcorp 2 3 38 26 5 0 74
Fulgent Genetics, Fulgent Genetics 4 3 18 21 1 0 47
Precision Medicine Center, Zhengzhou University 6 2 0 0 0 0 8
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 1 4 0 0 0 0 5
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genetics Research Group, University of Calgary 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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