ClinVar Miner

Variants studied for Coffin-Lowry syndrome

Coded as:
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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
29 8 3 0 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 total
RPS6KA3 29 8 3 39

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 19 0 0 19
Center for Human Genetics, Inc,Center for Human Genetics, Inc 3 3 2 8
Mendelics 1 1 1 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 1

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