ClinVar Miner

Variants studied for Coffin-Lowry 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 8 8 1 0 42

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
RPS6KA3 26 8 8 1 42

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 19 0 0 0 19
Center for Human Genetics, Inc 3 3 2 0 8
Invitae 1 0 4 1 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Fulgent Genetics 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 1

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