ClinVar Miner

Variants in gene DCLRE1C

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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 not provided total
118 106 407 534 37 2 1113

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Severe combined immunodeficiency due to DCLRE1C deficiency 112 40 291 512 26 1 962
Histiocytic medullary reticulosis 12 54 105 17 20 0 199
Athabaskan severe combined immunodeficiency 3 1 67 11 1 0 83
not provided 4 7 33 20 10 1 69
Inborn genetic diseases 0 0 54 3 0 0 57
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 4 13 13 2 1 0 33
not specified 0 1 11 8 9 0 28
DCLRE1C-related disorder 1 1 0 10 2 0 14
Severe combined immunodeficiency disease 5 4 0 0 2 0 11
Severe combined immunodeficiency, partial 2 0 0 0 0 0 2
Aicardi-Goutieres syndrome 1 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 102 27 275 509 24 0 937
Natera, Inc. 4 0 86 21 10 0 121
Illumina Laboratory Services, Illumina 0 1 77 7 15 0 100
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 11 10 56 6 7 0 90
Baylor Genetics 11 51 1 0 0 0 63
Ambry Genetics 0 0 54 3 0 0 57
GeneDx 2 0 8 3 12 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 11 3 3 0 25
Fulgent Genetics, Fulgent Genetics 4 13 6 1 1 0 25
Breakthrough Genomics, Breakthrough Genomics 0 0 7 6 7 0 20
PreventionGenetics, part of Exact Sciences 0 1 0 10 6 0 17
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 9 4 0 14
CeGaT Center for Human Genetics Tuebingen 1 2 3 6 2 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 7 3 0 1 0 13
Genome-Nilou Lab 0 0 7 1 5 0 13
Eurofins Ntd Llc (ga) 0 0 8 2 2 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 3 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Mendelics 1 0 1 0 2 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Cowan and Puck Lab, Allergy Immunology and BMT Division, UCSF Benioff Children's Hospital 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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