ClinVar Miner

Variants in gene IFITM5

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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 total
2 1 77 63 42 157

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 0 56 57 42 147
Inborn genetic diseases 0 0 28 1 0 29
not specified 0 0 2 2 5 9
Osteogenesis imperfecta 0 0 2 4 2 8
Osteogenesis imperfecta type 5 2 1 2 1 3 8
IFITM5-related disorder 1 0 1 4 1 7

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 46 46 28 122
GeneDx 1 0 6 12 20 39
Ambry Genetics 0 0 28 1 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 11 14
Eurofins Ntd Llc (ga) 0 0 7 1 2 10
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 4 2 8
PreventionGenetics, part of Exact Sciences 1 0 1 4 2 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 2 1 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 3
OMIM 2 0 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 2
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 1
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 0 1 0 0 1

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