ClinVar Miner

Variants studied for Marshall-Smith syndrome

Coded as:
Minimum submission review status: Collection method:
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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
28 8 2 1 0 39

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NFIX 28 8 2 1 39

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 12 0 0 0 12
Mendelics 5 0 0 1 6
Genetic Services Laboratory, University of Chicago 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 3
Baylor Genetics 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 1
3billion 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 1

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