ClinVar Miner

Variants studied for Alagille syndrome due to a JAG1 point mutation

Included ClinVar conditions (3):
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 total
44 6 73 45 26 183

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAG1 43 6 73 45 26 182
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 45 31 14 90
Invitae 22 3 25 15 12 77
OMIM 12 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 0 0 0 4
Fulgent Genetics 1 0 3 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 1 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1

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