ClinVar Miner

Variants in gene INVS

Minimum submission review status: Collection method:
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Gene type:
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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
27 9 264 77 27 365

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nephronophthisis 19 5 154 44 20 242
not provided 8 1 98 17 0 124
Infantile nephronophthisis 6 3 53 12 7 78
not specified 0 0 1 15 18 32

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 5 144 58 19 243
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 92 3 11 112
Illumina Clinical Services Laboratory,Illumina 2 0 59 11 6 78
PreventionGenetics, 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
Baylor Genetics 1 0 2 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 2
Mendelics 0 0 0 0 2 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Lineagen, Inc 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 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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