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
145 58 87 58 37 3 343

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cerebral cavernous malformation 95 10 64 31 16 3 210
not provided 63 49 20 29 4 0 159
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 0 38 6 32 0 76
not specified 5 0 2 13 4 0 22
Cerebral cavernous malformations 1 9 0 0 0 0 0 9
Cavernous hemangioma 1 1 0 0 0 0 2
Seizures 0 0 2 0 0 0 2
none provided 0 0 0 1 1 0 2
Cavernous malformations of CNS and retina 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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 89 6 16 25 9 0 145
PreventionGenetics, PreventionGenetics 34 42 15 14 1 0 106
Illumina Clinical Services Laboratory,Illumina 0 0 45 25 32 0 76
GeneDx 29 6 5 4 0 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 0 1 1 4 0 12
OMIM 11 0 0 0 0 0 11
Athena Diagnostics Inc 5 1 1 1 1 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 3 0 0 0 7
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 0 2 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 1 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of 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
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Myllykangas group,University of Helsinki 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 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

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