ClinVar Miner

Variants studied for congenital dyserythropoietic anemia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
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
41 5 108 35 30 214

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDAN1 10 2 51 12 12 84
SEC23B 12 2 33 11 9 65
KLF1 3 0 8 11 5 27
GATA1 13 1 7 0 4 25
COX4I2 1 0 9 1 0 11
C15orf41 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 2 95 34 21 154
Invitae 10 2 12 1 8 33
GeneReviews 18 0 0 0 4 22
OMIM 20 0 0 0 0 20
Department of Medical Genetics,Oslo University Hospital 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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