ClinVar Miner

Variants studied for Bone marrow failure syndrome 3

Coded as:
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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
12 2 8 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DNAJC21 12 2 8 21

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Baylor Genetics 1 0 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 2
3billion 0 1 1 2
Center of Genomic Medicine, University of Medicine and Pharmacy Victor Babes Timisoara 2 0 0 2
Mendelics 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1

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