ClinVar Miner

Variants studied for Bardet-Biedl syndrome 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
23 58 127 17 12 223

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
MKKS 23 58 115 15 11 208
LOC128706665, LOC128706666, MKKS 0 0 12 2 1 15

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 8 11 80 11 0 110
Illumina Laboratory Services, Illumina 0 0 41 4 11 56
Baylor Genetics 9 43 2 0 0 54
OMIM 7 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 5 0 0 6
New York Genome Center 0 0 6 0 0 6
3billion 2 0 1 1 0 4
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 1 1 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Cellular and Molecular Research Center, Qom University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1

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