ClinVar Miner

Variants studied for Al-Raqad syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
4 4 9 1 3 19

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 1 0 6
DCPS, TIRAP 1 1 1 0 1 4

Submitter and significance breakdown #

Total submitters: 11
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
Mendelics 1 0 0 1 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 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 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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