ClinVar Miner

Variants studied for Congenital dyserythropoietic anemia, type II

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
15 9 44 6 18 87

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SEC23B 10 8 40 5 17 75
LOC126862987, SEC23B 5 1 4 1 1 12

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 2 0 35 6 14 57
OMIM 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 4
Mendelics 1 0 1 1 0 3
MGZ Medical Genetics Center 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 1 1 0 0 0 2
3billion 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 1
DASA 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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