ClinVar Miner

Variants in gene KRIT1

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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
254 74 182 114 52 5 613

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cerebral cavernous malformation 212 21 120 76 24 5 439
not provided 80 53 34 23 15 0 197
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 0 38 6 32 0 76
Inborn genetic diseases 0 0 29 25 0 0 54
KRIT1-related condition 8 2 7 14 1 0 32
not specified 5 0 2 13 6 0 24
Cerebral cavernous malformation 1 11 1 0 0 0 0 12
Cavernous hemangioma 1 1 0 0 0 0 2
KRIT1-Related Disorders 1 0 1 0 0 0 2
See cases 0 0 2 0 0 0 2
Seizure 0 0 2 0 0 0 2
Cavernous malformations of CNS and retina 1 0 0 0 0 0 1
Hereditary cavernous hemangioma of brain 1 0 0 0 0 0 1
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 1 0 0 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 198 10 65 66 15 0 354
PreventionGenetics, part of Exact Sciences 40 42 18 28 2 0 130
GeneDx 39 10 22 6 11 0 88
Illumina Laboratory Services, Illumina 1 0 45 25 32 0 77
Ambry Genetics 0 0 29 25 0 0 54
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 0 2 2 4 0 17
Athena Diagnostics Inc 8 3 1 1 2 0 15
OMIM 11 0 0 0 0 0 11
CeGaT Center for Human Genetics Tuebingen 3 2 0 3 3 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 6 0 0 1 1 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 0 0 0 2 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 3 0 0 0 7
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
Clinical Genetics, Academic Medical Center 0 0 0 1 3 0 4
New York Genome Center 0 0 4 0 0 0 4
Baylor Genetics 0 2 1 0 0 0 3
MGZ Medical Genetics Center 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 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
3billion 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Eurofins Ntd Llc (ga) 2 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 2 0 0 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 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
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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