ClinVar Miner

Variants in gene combination LOC126860794, NOTCH1

See also:
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
4 2 55 88 26 1 148

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Adams-Oliver syndrome 5 2 0 33 66 21 0 114
Familial thoracic aortic aneurysm and aortic dissection 0 0 18 32 1 0 49
not provided 3 1 11 15 6 0 34
Aortic valve disease 1 1 1 3 9 9 0 23
not specified 0 0 1 12 6 0 17
NOTCH1-related disorder 1 0 3 5 1 0 10
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 1 0 0 1 2
Connective tissue disorder 0 0 0 2 0 0 2
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
KA-like vemurafenib-induced squamous lesions 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 28 66 15 0 109
Ambry Genetics 1 0 18 29 0 0 48
GeneDx 3 1 11 19 5 0 39
Genome-Nilou Lab 0 0 3 9 9 0 21
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 3 6 0 10
PreventionGenetics, part of Exact Sciences 0 0 3 5 1 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 0 5 0 0 5
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 0 3 1 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 2 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 2 1 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 1 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
OMIM 2 0 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 2 0 0 2
Centre of Medical Genetics, University of Antwerp 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
University of British Columbia 0 0 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Molecular and Medical Genetics Group, King's College London 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.