ClinVar Miner

Variants studied for congenital 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 total
43 13 195 41 64 341

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDAN1 11 3 114 17 23 165
SEC23B 13 5 59 21 22 110
KLF1 2 0 14 1 15 32
GATA1 13 1 4 0 1 19
CDIN1 2 4 2 0 0 6
COX4I2 1 0 2 1 0 4
KLF1, LOC117125591 1 0 0 0 2 3
KLF1, LOC117125592 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 2 164 27 56 251
Invitae 12 2 18 13 13 58
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 1 19 27
GeneReviews 18 0 0 0 4 22
OMIM 20 0 0 0 0 20
Baylor Genetics 0 0 6 0 0 6
SIB Swiss Institute of Bioinformatics 0 4 2 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 0 0 4
Mendelics 0 0 1 1 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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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