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
169 19 99 41 36 20 372

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 102 10 64 31 16 3 217
CCM2 34 6 8 4 14 8 72
PDCD10 30 3 17 3 2 9 63
ANKIB1, KRIT1, LOC113748416 0 0 3 2 2 0 7
KRIT1, LOC113748416 0 0 5 0 1 0 6
PDCD10, SERPINI1 1 0 1 1 1 0 4
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 137 10 27 15 16 0 205
Illumina Clinical Services Laboratory,Illumina 0 0 68 26 15 0 109
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 3 6 0 9
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 3 0 0 0 7
Baylor Genetics 2 1 1 0 0 0 4
GeneReviews 4 0 0 0 0 0 4
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 1 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 1

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