ClinVar Miner

Variants in gene NOTCH2

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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
43 11 271 40 41 30 398

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 4 225 16 6 0 261
Hajdu-Cheney syndrome 23 3 43 14 24 0 106
not specified 0 0 1 17 24 30 62
Alagille syndrome 2 5 3 9 0 0 0 17
See cases 0 0 4 0 2 0 6
Alagille syndrome 2; Hajdu-Cheney syndrome 0 0 2 0 0 0 2
Congenital anomalies of kidney and urinary tract 0 0 2 0 0 0 2
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 1
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
Premature ovarian failure 0 1 0 0 0 0 1
VATER association 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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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 9 0 39 20 26 0 94
ITMI 0 0 0 0 0 30 30
GeneDx 5 2 4 1 2 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 9 3 0 0 13
OMIM 9 0 0 0 0 0 9
Baylor Genetics 1 1 7 0 0 0 9
PreventionGenetics, 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
Mendelics 0 1 0 2 2 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 2 2 0 4
ISCA site 1 0 0 4 0 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1 0 2
Metabolic Disease laboratory,Sheba Medical Center 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
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
Illumina Clinical Services Laboratory,Illumina 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 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 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Molecular Genetics Laboratory,University Hospital Copenhagen 0 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 0 1

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