ClinVar Miner

Variants in gene NCF4

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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 not provided total
18 11 168 167 55 4 402

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 18 8 148 148 19 1 338
not provided 0 1 11 18 44 1 73
not specified 0 0 36 6 14 0 54
NCF4-related disorder 0 0 4 6 2 0 12
Chronic granulomatous disease 3 2 0 0 0 2 6

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 13 4 146 147 18 0 328
GeneDx 0 0 3 13 44 0 60
Ambry Genetics 0 0 32 3 0 0 35
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 17 0 24
PreventionGenetics, part of Exact Sciences 0 0 4 6 8 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 4 1 3 0 13
Fulgent Genetics, Fulgent Genetics 1 3 5 1 0 0 10
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 8 0 8
Eurofins Ntd Llc (ga) 0 0 2 2 3 0 7
CeGaT Center for Human Genetics Tuebingen 0 1 2 4 0 0 7
OMIM 6 0 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Mendelics 0 1 0 1 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
GeneReviews 0 0 0 0 0 2 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Clinical Immunology, Karolinska University Hospital 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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