ClinVar Miner

Variants studied for Bardet-Biedl syndrome

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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
258 76 628 179 157 1 1284

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 0 104 17 4 0 138
BBS2 34 14 54 19 16 0 135
BBS12 29 3 54 22 24 0 129
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 27 8 22 9 4 1 67
TTC8 2 0 36 6 7 0 50
BBS5 10 5 16 5 10 0 46
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 176 35 579 171 134 0 1095
Illumina Clinical Services Laboratory,Illumina 0 0 43 7 7 0 57
Laboratory of Medical Genetics, INSERM 50 0 0 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 22 10 0 1 1 0 34
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
Natera, Inc. 0 0 0 0 1 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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