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
150 14 209 81 39 1 452

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 118 6 144 3 0 1 271
Alagille syndrome 1 38 5 29 15 13 0 99
Arteriohepatic dysplasia 1 1 45 31 14 0 92
Isolated Nonsyndromic Congenital Heart Disease 0 0 45 29 14 0 88
not specified 0 0 5 37 29 0 69
Cardiovascular phenotype 0 0 4 13 12 0 29
Alagille syndrome 1; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 1 0 3 0 0 0 4
Inborn genetic diseases 1 0 1 0 0 0 2
Tetralogy of Fallot 1 1 0 0 0 0 2
Deafness, congenital heart defects, and posterior embryotoxon 1 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 66 1 134 14 9 0 224
GeneDx 61 5 16 17 0 1 100
Illumina Clinical Services Laboratory,Illumina 0 0 45 31 14 0 90
Invitae 22 3 25 15 12 0 77
PreventionGenetics 0 0 0 12 22 0 34
Ambry Genetics 1 0 5 13 12 0 31
OMIM 14 0 0 0 0 0 14
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 12 0 14
Fulgent Genetics 1 0 3 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 1 0 1 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 0 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
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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 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
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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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