ClinVar Miner

Variants studied for Cerebral cavernous malformation

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
216 23 131 79 28 5 463

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 212 21 120 76 24 5 439
ANKIB1, KRIT1, LOC113748416 0 0 4 2 2 0 8
KRIT1, LOC113748416 0 0 5 0 1 0 6
CCM2 1 2 0 0 0 0 3
PDCD10 2 0 1 0 0 0 3
AKAP9, ANKIB1, CYP51A1, KRIT1, LRRD1 1 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 1 0 0 0 1
NOTCH3 0 0 0 0 1 0 1
PDCD10, SERPINI1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 198 10 65 57 15 0 345
Illumina Laboratory Services, Illumina 1 0 56 25 12 0 94
Laboratory of Medical Genetics, University of Torino 5 1 0 0 1 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 6
Revvity Omics, Revvity 1 2 2 0 0 0 5
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 2 0 0 0 0 3 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 1 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 0 2 0 4
Baylor Genetics 0 2 1 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 0 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1

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