ClinVar Miner

Variants studied for Roifman syndrome

Coded as:
Minimum submission review status: Collection method:
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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
8 12 2 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CLASP1, RNU4ATAC 8 12 2 16

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Undiagnosed Diseases Network, NIH 2 3 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 2
Broad Institute Rare Disease Group, Broad Institute 1 1 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1

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