ClinVar Miner

Variants studied for Sotos syndrome 2

Coded as:
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
7 8 1 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NFIX 7 8 1 16

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
Baylor Genetics 1 0 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 1

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