ClinVar Miner

Variants in gene NOTCH2

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
38 8 235 25 32 30 338

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 14 4 222 5 2 0 247
not specified 0 0 1 17 23 30 61
Hajdu-Cheney syndrome 16 2 12 8 18 0 55
Alagille syndrome 2 10 2 0 0 0 0 12
See cases 0 0 5 0 2 0 7
Alagille syndrome 2; Hajdu-Cheney syndrome 0 0 2 0 0 0 2
Hirschsprung disease 1 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Monoclonal B-Cell Lymphocytosis 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 209 14 16 0 250
Invitae 4 0 11 8 18 0 41
ITMI 0 0 0 0 0 30 30
GeneDx 5 2 4 1 2 0 14
GeneReviews 10 0 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
PreventionGenetics 0 0 0 1 7 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 4 1 0 6
ISCA site 1 0 0 5 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 2 2 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Fulgent Genetics 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Metabolic Disease laboratory,Sheba Medical Center 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Ambry Genetics 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Karsan Lab,BC Cancer Agency 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Molecular Genetics Laboratory,University Hospital Copenhagen 0 1 0 0 0 0 1

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