ClinVar Miner

Variants studied for Bardet-Biedl syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
127 38 550 138 125 1 929

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS9 15 2 43 22 20 0 92
ASTN2, TRIM32 4 0 64 9 3 0 79
CEP290 0 0 68 7 4 0 79
BBS10 19 1 46 9 7 0 78
BBS2 10 6 42 16 10 0 76
BBS4 17 4 23 9 16 0 68
BBS12 11 1 26 18 17 0 64
BBS1, ZDHHC24 16 6 35 4 8 0 63
WDPCP 1 0 43 9 6 0 56
BBS7 7 2 31 5 8 0 52
MKKS 7 1 27 9 4 0 47
TTC8 2 0 21 6 6 0 33
MKS1 0 0 23 3 1 0 27
SDCCAG8 1 0 21 1 3 0 26
BBS1 8 4 9 3 3 1 24
BBS5 4 4 3 2 7 0 20
ARL6 1 1 10 3 1 0 16
AKT3, SDCCAG8 0 0 6 0 0 0 6
BBS4, HIGD2B 0 0 2 2 1 0 5
C12orf29, CEP290 0 0 4 1 0 0 5
ALMS1 0 1 0 0 0 0 1
ARL6, CRYBG3 0 1 0 0 0 0 1
BBS1, DPP3, ZDHHC24 0 1 0 0 0 0 1
CCDC28B 0 0 1 0 0 0 1
CEP19 1 0 0 0 0 0 1
GLI1 0 0 1 0 0 0 1
HTR2B, PSMD1 0 0 1 0 0 0 1
IFT27 1 0 0 0 0 0 1
IFT27, LOC105373021 1 0 0 0 0 0 1
IFT74 0 1 0 0 0 0 1
KCNAB2, NPHP4 0 1 0 0 0 0 1
NPHP1 1 0 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 438 94 37 0 569
Invitae 54 8 111 43 74 0 290
Laboratory of Medical Genetics,INSERM 46 0 0 0 0 0 46
GeneReviews 9 0 0 0 16 0 25
Integrated Genetics/Laboratory Corporation of America 11 7 0 1 1 0 20
Center for Human Disease Modeling,Duke University Medical Center 1 15 0 0 0 0 16
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 10 3 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
Counsyl 0 5 0 0 0 0 5
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 3 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 3 0 0 0 0 0 3
OMIM 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1

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