ClinVar Miner

Variants studied for branchiootic syndrome

Included ClinVar conditions (5):
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 20 124 59 64 7 280

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 14 8 60 30 43 0 148
SIX1 7 10 52 28 21 7 117
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: 30
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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
Invitae 2 3 38 26 5 0 74
Fulgent Genetics, Fulgent Genetics 4 3 18 21 1 0 47
OMIM 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Precision Medicine Center, Zhengzhou University 5 2 0 0 0 0 7
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
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
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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 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
New York Genome Center 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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