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
157 48 583 105 52 1 935

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASTN2, TRIM32 4 0 79 6 1 0 90
BBS9 16 2 48 16 2 0 84
BBS10 25 3 47 7 2 0 83
BBS2 18 5 43 13 3 0 81
CEP290 0 0 68 7 4 0 79
BBS4 21 6 24 4 12 0 66
BBS1, ZDHHC24 18 7 35 3 4 0 65
BBS12 15 1 30 15 5 0 65
WDPCP 1 0 44 7 2 0 54
BBS7 9 4 31 2 5 0 51
MKKS 7 2 28 9 4 0 49
TTC8 2 0 24 4 1 0 31
MKS1 0 2 23 3 1 0 28
SDCCAG8 1 0 21 1 3 0 26
BBS1 8 5 9 1 1 1 22
ARL6 2 1 10 3 1 0 17
BBS5 6 4 3 1 0 0 14
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
EML5, PTPN21, SPATA7, TTC8, ZC3H14 0 0 1 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: 19
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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 80 12 140 10 0 0 242
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 12 6 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
Sharon lab,Hadassah-Hebrew University Medical Center 9 4 0 0 0 0 13
MAGI'S LAB - Medical Genetics Laboratory,MAGI GROUP 6 3 3 0 0 0 12
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Counsyl 0 5 0 0 0 0 5
Tolun Lab, Human Genetics Laboratory,Bogazici University 1 0 3 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
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
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
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1

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