ClinVar Miner

Variants studied for Branchiootic syndrome 3

Coded as:
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
5 8 27 2 19 7 64

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SIX1 5 6 24 2 19 7 59
MIR9718, SIX1 0 2 1 0 0 0 3
LOC130055766, SIX1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 22 2 18 0 42
GeneReviews 0 0 0 0 0 7 7
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 1 4 0 0 0 0 5
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
Precision Medicine Center, Zhengzhou University 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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