ClinVar Miner

Variants studied for Marshall-Smith syndrome

Included ClinVar conditions (2):
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
26 3 2 1 0 32

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 total
NFIX 25 3 2 1 31
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Invitae 7 1 2 0 10
OMIM 9 0 0 0 9
Mendelics 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 3
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 1

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