ClinVar Miner

Variants studied for constitutional dyserythropoietic anemia

Included ClinVar conditions (14):
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
58 18 457 119 113 8 720

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LPIN2 15 5 262 78 49 8 379
CDAN1 11 3 114 17 23 0 165
SEC23B 13 5 59 21 22 0 110
KLF1 2 0 14 1 15 0 32
GATA1 13 1 4 0 1 0 19
CDIN1 2 4 2 0 0 0 6
COX4I2 1 0 2 1 0 0 4
KLF1, LOC117125591 1 0 0 0 2 0 3
KLF1, LOC117125592 0 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 2 302 48 92 0 446
Invitae 21 7 144 59 28 0 259
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 21 18 30 0 69
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
Baylor Genetics 0 0 6 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 4 2 0 0 0 6
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 1 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 2 1 0 4
Mendelics 0 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Nilou-Genome Lab 0 0 1 0 0 0 1

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