ClinVar Miner

Variants studied for Bardet-Biedl syndrome 14

Included ClinVar conditions (8):
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 not provided total
179 371 614 87 22 2 1246

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 147 312 465 61 22 2 985
TMEM67 25 35 123 24 0 0 205
CEP290, RLIG1 5 19 20 1 0 0 42
CEP290, LOC129390514 2 5 6 1 0 0 14

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 104 161 514 81 0 0 860
Baylor Genetics 137 235 5 0 0 0 377
Illumina Laboratory Services, Illumina 0 0 108 6 16 0 130
Genome-Nilou Lab 0 0 10 0 6 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 4 1 10 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 6 2 0 0 0 0 8
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 1 0 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 1

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