ClinVar Miner

Variants in gene COX20

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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
6 11 54 42 15 118

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 5 43 36 14 93
Mitochondrial complex 4 deficiency, nuclear type 11 6 7 23 3 0 38
not specified 0 0 0 5 6 11
Inborn genetic diseases 0 0 4 2 0 6
COX20-related disorder 0 0 1 1 2 4
Mitochondrial complex IV deficiency, nuclear type 1 0 0 3 0 0 3
Mitochondrial disease 0 0 1 0 0 1

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 0 1 31 29 8 69
GeneDx 0 5 11 11 12 39
Fulgent Genetics, Fulgent Genetics 0 5 23 3 0 30
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 7 10
OMIM 6 0 0 0 0 6
Ambry Genetics 0 0 4 2 0 6
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 1 1 5
PreventionGenetics, part of Exact Sciences 0 0 1 1 2 4
Baylor Genetics 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 2
3billion 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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