ClinVar Miner

Variants in gene JAG1

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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
209 33 347 144 73 1 729

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alagille syndrome 1 96 16 166 78 20 0 373
not provided 122 9 144 29 2 1 302
Isolated Nonsyndromic Congenital Heart Disease 0 0 68 19 57 0 144
not specified 0 0 8 37 29 0 72
Cardiovascular phenotype 0 0 4 13 12 0 29
Arteriohepatic dysplasia 2 1 10 2 0 0 15
Tetralogy of Fallot 4 1 4 0 0 0 9
Alagille syndrome 1; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 1 0 3 0 0 0 4
Midaortic syndrome 0 4 0 0 0 0 4
Inborn genetic diseases 2 0 1 0 0 0 3
Arteriohepatic dysplasia; Heart, malformation of 1 0 0 0 0 0 1
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 0 1
Deafness, congenital heart defects, and posterior embryotoxon 1 1 0 0 0 0 1
Retinal dystrophy 0 1 0 0 0 0 1
Scoliosis; Pes planus; Aortic dilatation 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 10 159 88 22 0 352
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 66 1 134 14 9 0 224
Illumina Clinical Services Laboratory,Illumina 0 0 69 19 57 0 145
GeneDx 63 5 16 27 0 1 112
PreventionGenetics, PreventionGenetics 0 0 0 12 22 0 34
Ambry Genetics 2 0 5 13 12 0 32
OMIM 14 0 0 0 0 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 12 0 14
Baylor Genetics 3 0 5 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 3 0 1 0 0 6
GeneReviews 5 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Yale Center for Mendelian Genomics,Yale University 0 4 0 0 0 0 4
Mendelics 1 0 0 1 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 2 0 0 3
Gharavi Laboratory,Columbia University 1 0 2 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Molecular Genetics Laboratory,Motol Hospital 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1

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