ClinVar Miner

Variants studied for Adams-Oliver syndrome

Included ClinVar conditions (8):
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 not provided total
66 26 615 373 123 3 1184

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 30 13 586 360 102 2 1074
EOGT 7 2 9 6 9 0 32
DOCK6 7 3 8 0 8 1 26
DLL4 13 2 3 0 0 0 17
ARHGAP31 3 0 6 5 0 0 14
DOCK6, LOC105372273 2 2 1 1 4 0 10
RBPJ 2 3 0 0 0 0 5
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 2
MIR4673, NOTCH1 0 0 1 1 0 0 2
C9orf163, INPP5E, NOTCH1, SEC16A 0 1 0 0 0 0 1
LINC01451, LOC110121282, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 3 573 361 108 0 1058
Centre of Medical Genetics, University of Antwerp 25 6 14 0 0 0 44
OMIM 30 0 0 0 0 0 30
Baylor Genetics 0 2 13 0 0 0 15
Mendelics 0 2 2 7 4 0 15
Fulgent Genetics,Fulgent Genetics 0 0 15 0 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 12 0 12
Molecular and Medical Genetics Group,King's College London 5 4 1 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Illumina Clinical Services Laboratory,Illumina 0 0 2 3 0 0 5
University of British Columbia 0 3 0 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1

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