ClinVar Miner

Variants in gene OTULIN

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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 risk factor total
10 2 85 116 18 5 228

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 0 1 73 113 14 0 198
not specified 0 0 15 1 4 0 20
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive 8 0 4 2 0 0 14
OTULIN-related disorder 0 0 3 5 2 0 10
Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 0 1 0 0 0 5 6
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant 2 0 0 0 0 0 2
Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 69 111 14 0 194
Ambry Genetics 0 0 15 0 0 0 15
OMIM 9 0 0 0 0 5 12
CeGaT Center for Human Genetics Tuebingen 0 1 6 5 0 0 12
PreventionGenetics, part of Exact Sciences 0 0 3 5 2 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 9 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
Baylor Genetics 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital 0 1 0 0 0 0 1

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