ClinVar Miner

Variants in gene INVS

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 total
17 4 145 26 20 197

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 1 96 0 0 103
Nephronophthisis 10 3 59 12 13 93
not specified 0 0 1 15 18 32
Infantile nephronophthisis 5 0 7 2 2 16

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 92 3 11 112
Invitae 6 2 28 11 9 56
Illumina Clinical Services Laboratory,Illumina 2 0 35 1 4 42
PreventionGenetics 0 0 0 12 12 24
OMIM 5 0 0 0 0 5
GeneReviews 4 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 2 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Blueprint Genetics, 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1

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