ClinVar Miner

Variants studied for Congenital dyserythropoietic anemia, type I

Coded as:
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
7 4 106 16 21 1 154

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDAN1 7 4 95 14 18 1 138
CDAN1, LOC130056931 0 0 7 2 3 0 12
CDAN1, LOC130056933 0 0 4 0 0 0 4

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 2 103 16 21 0 142
OMIM 7 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 0 0 0 3
GeneReviews 1 0 0 0 0 1 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Research Laboratory of Clinical Virology, Ruijin Hospital 0 1 0 0 0 0 1

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