ClinVar Miner

Variants studied for constitutional dyserythropoietic anemia

Included ClinVar conditions (13):
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 not provided total
48 7 249 68 49 8 405

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LPIN2 7 2 141 33 19 8 191
CDAN1 10 2 51 12 12 0 84
SEC23B 12 2 33 11 9 0 65
KLF1 3 0 8 11 5 0 27
GATA1 13 1 7 0 4 0 25
COX4I2 1 0 9 1 0 0 11
C15orf41 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 2 189 54 28 0 275
Invitae 12 4 61 11 18 0 106
GeneReviews 22 0 0 0 6 0 28
OMIM 22 0 0 0 0 0 22
Unité médicale des maladies autoinflammatoires, CHRU Montpellier 0 0 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 3 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 2 1 0 4
Department of Medical Genetics,Oslo University Hospital 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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