ClinVar Miner

Variants studied for cerebral cavernous malformation 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
35 5 8 4 14 8 73

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CCM2 34 5 8 4 14 8 72
CCM2, LOC100128364, NACAD 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 2 7 3 9 0 46
OMIM 10 0 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 6 0 9
Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald 0 0 0 0 0 8 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 4 0 4
Baylor Genetics 1 0 1 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1

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