ClinVar Miner

Variants studied for Congenital dyserythropoietic anemia

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
0 2 13 3 3 21

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination likely pathogenic uncertain significance likely benign benign total
SEC23B 1 4 2 2 9
LOC130065472, SEC23B 0 4 0 1 5
CDAN1 0 3 1 0 4
IRAK4 1 1 0 0 2
UBE2Q2 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 11 3 3 17
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 1

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