ClinVar Miner

Variants studied for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
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 total
28 67 88 9 13 193

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BBS10 28 67 88 9 13 193

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 7 62 16 0 0 85
Illumina Clinical Services Laboratory,Illumina 3 0 55 2 12 72
Natera, Inc. 6 1 17 7 4 35
OMIM 6 0 0 0 0 6
Baylor Genetics 4 0 2 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Mendelics 2 0 1 0 0 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 3
Department of Medical Genetics, Faculty of Medicine,Ege University 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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