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
222 27 135 79 28 5 477

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KRIT1 216 25 124 76 24 5 451
ANKIB1, KRIT1, LOC113748416 0 0 4 2 2 0 8
KRIT1, LOC113748416 0 0 5 0 1 0 6
PDCD10 3 0 1 0 0 0 4
CCM2 1 2 0 0 0 0 3
AKAP9, ANKIB1, CYP51A1, KRIT1, LRRD1 1 0 0 0 0 0 1
AKAP9, CYP51A1, KRIT1, LRRD1, MTERF1 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: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 199 13 67 57 15 0 351
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
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 0 0 0 6
Revvity Omics, Revvity 1 2 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 2 0 0 0 0 3 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 5 0 0 0 0 0 5
Baylor Genetics 0 2 2 0 0 0 4
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
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.