ClinVar Miner

Variants in gene CWC27

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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
31 18 159 147 28 372

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 28 8 150 142 25 351
Inborn genetic diseases 0 0 33 1 0 34
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 7 10 2 0 5 23
CWC27-related disorder 0 0 0 11 2 13
Retinal dystrophy 1 1 8 0 0 10
not specified 0 0 1 0 2 3
Optic atrophy 0 0 1 0 0 1
Retinitis pigmentosa 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 27 8 147 136 24 342
Ambry Genetics 0 0 33 1 0 34
PreventionGenetics, part of Exact Sciences 0 0 0 11 2 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 8 11
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 9 0 0 10
Fulgent Genetics, Fulgent Genetics 1 6 0 0 0 7
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 1 6
Genome-Nilou Lab 0 0 0 0 5 5
OMIM 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 2 0 0 4
GeneDx 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Molecular Medicine, University of Pavia 1 0 0 0 0 1
3billion 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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