ClinVar Miner

Variants studied for Alagille syndrome due to a JAG1 point mutation

Included ClinVar conditions (4):
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
99 17 177 80 20 389

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
JAG1 97 17 176 80 20 386
JAG1, LOC112694687, LOC112694688, MIR6870, MKKS, SLX4IP, SNAP25 1 0 0 0 0 1
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 1
JAG1, SLX4IP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 74 10 160 76 20 340
Illumina Clinical Services Laboratory,Illumina 0 0 11 2 0 13
OMIM 12 0 0 0 0 12
Baylor Genetics 3 0 4 0 0 7
GeneReviews 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Mendelics 1 0 0 1 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 3
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Hereditary Research Laboratory, Bethlehem University 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 0 0 1

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