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
255 76 629 179 156 1 1280

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BBS10 44 7 57 32 9 0 146
BBS9 18 2 78 17 26 0 141
ASTN2, TRIM32 13 0 105 17 4 0 139
BBS2 34 14 54 19 16 0 134
BBS12 28 3 54 22 24 0 128
BBS4 25 9 38 10 24 0 106
BBS1, ZDHHC24 24 8 39 20 8 0 97
WDPCP 3 2 62 14 10 0 91
BBS7 13 6 45 5 6 0 75
BBS1 25 8 22 9 4 1 65
TTC8 2 0 36 6 7 0 50
BBS5 10 5 16 5 9 0 45
MKKS 7 2 3 1 4 0 17
CEP290 0 0 7 0 3 0 10
ARL6 5 1 1 1 1 0 9
AKT3, SDCCAG8 0 0 4 0 0 0 4
MKS1 0 2 2 0 0 0 4
C12orf29, CEP290 0 0 1 1 0 0 2
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
BBS4, HIGD2B 0 0 0 0 1 0 1
BBS9, RP9 0 0 1 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
IFT172 0 1 0 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
SDCCAG8 1 0 0 0 0 0 1
TRAPPC3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 175 35 579 171 133 0 1093
Illumina Clinical Services Laboratory,Illumina 0 0 44 7 7 0 58
Laboratory of Medical Genetics, INSERM 48 0 0 0 0 0 48
Integrated Genetics/Laboratory Corporation of America 20 10 0 1 1 0 32
GeneReviews 9 0 0 0 16 0 25
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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 8 0 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 3 1 0 0 0 7
Counsyl 0 5 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 3 0 0 0 0 4
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
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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1

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