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
97 53 45 37 10 3 233

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 58 49 20 14 2 0 138
Cerebral cavernous malformation 41 5 23 24 9 3 101
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 0 15 23 6 0 44
not specified 3 0 2 13 2 0 20
Cerebral cavernous malformations 1 9 0 0 0 0 0 9
Cavernous hemangioma 1 1 0 0 0 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

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PreventionGenetics 34 42 15 14 1 0 106
Invitae 36 3 8 3 2 0 51
Illumina Clinical Services Laboratory,Illumina 0 0 15 23 6 0 44
GeneDx 28 6 5 4 0 0 43
OMIM 11 0 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 0 1 0 3 0 8
Athena Diagnostics Inc 3 1 1 0 1 0 6
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 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
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1

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