ClinVar Miner

Variants studied for Al-Raqad 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
4 4 10 2 3 20

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
DCPS 2 1 4 0 2 9
DCPS, GSEC 1 2 4 2 0 6
DCPS, TIRAP 1 1 2 0 1 5

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 0 0 7 0 0 7
OMIM 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Mendelics 1 0 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 1

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