ClinVar Miner

Variants studied for CAMOS syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
16 16 89 9 6 130

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR73 16 16 86 9 3 124
ZNF592 0 0 3 0 2 5
ENG 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 6 74 8 0 88
OMIM 9 0 1 0 0 10
Revvity Omics, Revvity 1 2 7 0 0 10
Baylor Genetics 0 1 4 0 0 5
Daryl Scott Lab, Baylor College of Medicine 1 1 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
3billion 0 1 1 1 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 2
Mendelics 0 1 0 0 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Dasa 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 1

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