ClinVar Miner

Variants studied for cerebral cavernous malformation

Included ClinVar conditions (4):
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
88 9 45 32 15 20 205

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
KRIT1 48 5 23 24 9 3 108
PDCD10 17 1 13 2 0 9 42
CCM2 21 3 4 1 4 8 41
ANKIB1, KRIT1, LOC113748416 0 0 0 2 2 0 4
KRIT1, LOC113748416 0 0 3 1 0 0 4
PDCD10, SERPINI1 0 0 1 2 0 0 3
ANKIB1, KRIT1 0 0 1 0 0 0 1
CCM2, LOC100128364, NACAD 1 0 0 0 0 0 1
KRIT1, MIR1285-1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 5 15 4 2 0 83
Illumina Clinical Services Laboratory,Illumina 0 0 30 30 8 0 68
OMIM 26 0 0 0 0 0 26
Institute of Human Genetics Greifswald, Research Division,University Medicine Greifswald 2 0 0 0 0 20 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 1 5 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 0 6 0 8
GeneReviews 4 0 0 0 0 0 4
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 3 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1

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